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NM_002885.4(RAP1GAP):c.-62G>A AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 11, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV004438353.1

Allele description [Variation Report for NM_002885.4(RAP1GAP):c.-62G>A]

NM_002885.4(RAP1GAP):c.-62G>A

Gene:
RAP1GAP:RAP1 GTPase activating protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_002885.4(RAP1GAP):c.-62G>A
HGVS:
  • NC_000001.11:g.21626347C>T
  • NG_029807.1:g.48017G>A
  • NM_001145657.3:c.-62G>A
  • NM_001145658.3:c.131G>A
  • NM_001330383.3:c.-62G>A
  • NM_001350524.2:c.-62G>A
  • NM_001350525.2:c.-62G>A
  • NM_001350526.2:c.-62G>A
  • NM_001350527.2:c.-62G>A
  • NM_001350528.2:c.-62G>A
  • NM_001388200.1:c.-62G>A
  • NM_001388201.1:c.-62G>A
  • NM_001388202.1:c.-62G>A
  • NM_001388203.1:c.-62G>A
  • NM_001388204.1:c.-62G>A
  • NM_001388205.1:c.-62G>A
  • NM_001388206.1:c.-62G>A
  • NM_001388207.1:c.-62G>A
  • NM_001388208.1:c.-62G>A
  • NM_001388209.1:c.-62G>A
  • NM_001388210.1:c.-62G>A
  • NM_001388211.1:c.-62G>A
  • NM_001388212.1:c.-62G>A
  • NM_001388213.1:c.-62G>A
  • NM_001388214.1:c.-62G>A
  • NM_001388215.1:c.-62G>A
  • NM_001388216.1:c.-62G>A
  • NM_001388217.1:c.-62G>A
  • NM_001388218.1:c.-62G>A
  • NM_001388219.1:c.-62G>A
  • NM_001388220.1:c.-62G>A
  • NM_001388221.1:c.-62G>A
  • NM_001388222.1:c.-62G>A
  • NM_001388223.1:c.-62G>A
  • NM_001388224.1:c.-62G>A
  • NM_001388225.1:c.-62G>A
  • NM_001388226.1:c.-62G>A
  • NM_001388227.1:c.-62G>A
  • NM_001388228.1:c.-62G>A
  • NM_001388229.1:c.-62G>A
  • NM_001388230.1:c.-62G>A
  • NM_001388231.1:c.-81G>A
  • NM_001388233.1:c.-62G>A
  • NM_001388234.1:c.-62G>A
  • NM_001388235.1:c.-62G>A
  • NM_001388236.1:c.-62G>A
  • NM_001388237.1:c.-62G>A
  • NM_001388238.1:c.-62G>A
  • NM_001388239.1:c.-62G>A
  • NM_001388240.1:c.-62G>A
  • NM_001388241.1:c.-18-6297G>A
  • NM_001388242.1:c.-62G>A
  • NM_001388243.1:c.-62G>A
  • NM_001388244.1:c.-62G>A
  • NM_001388245.1:c.-62G>A
  • NM_001388246.1:c.-62G>A
  • NM_001388247.1:c.-62G>A
  • NM_001388248.1:c.-62G>A
  • NM_001388249.1:c.-62G>A
  • NM_001388250.1:c.-62G>A
  • NM_001388251.1:c.-62G>A
  • NM_001388252.1:c.-62G>A
  • NM_001388253.1:c.-62G>A
  • NM_001388254.1:c.-62G>A
  • NM_001388255.1:c.-62G>A
  • NM_001388256.1:c.-62G>A
  • NM_001388258.1:c.-62G>A
  • NM_001388259.1:c.-62G>A
  • NM_001388261.1:c.-62G>A
  • NM_001388263.1:c.-62G>A
  • NM_001388264.1:c.-62G>A
  • NM_001388266.1:c.-62G>A
  • NM_001388267.1:c.-62G>A
  • NM_001388269.1:c.-62G>A
  • NM_001388270.1:c.-62G>A
  • NM_001388273.1:c.-62G>A
  • NM_001388276.1:c.-531G>A
  • NM_001388279.1:c.-531G>A
  • NM_001388280.1:c.-531G>A
  • NM_001388281.1:c.-531G>A
  • NM_001388282.1:c.131G>A
  • NM_001388283.1:c.-18-6297G>A
  • NM_001388284.1:c.-62G>A
  • NM_001388285.1:c.-62G>A
  • NM_001388286.1:c.131G>A
  • NM_001388287.1:c.131G>A
  • NM_001388288.1:c.131G>A
  • NM_001388289.1:c.131G>A
  • NM_001388290.1:c.131G>A
  • NM_001388291.1:c.131G>A
  • NM_001388292.1:c.131G>A
  • NM_001388293.1:c.131G>A
  • NM_001388294.1:c.131G>A
  • NM_001388295.1:c.131G>A
  • NM_001388296.1:c.131G>A
  • NM_002885.4:c.-62G>AMANE SELECT
  • NP_001139130.1:p.Arg44Gln
  • NP_001375211.1:p.Arg44Gln
  • NP_001375215.1:p.Arg44Gln
  • NP_001375216.1:p.Arg44Gln
  • NP_001375217.1:p.Arg44Gln
  • NP_001375218.1:p.Arg44Gln
  • NP_001375219.1:p.Arg44Gln
  • NP_001375220.1:p.Arg44Gln
  • NP_001375221.1:p.Arg44Gln
  • NP_001375222.1:p.Arg44Gln
  • NP_001375223.1:p.Arg44Gln
  • NP_001375224.1:p.Arg44Gln
  • NP_001375225.1:p.Arg44Gln
  • NC_000001.10:g.21952840C>T
  • NM_001145658.1:c.131G>A
  • NR_170899.1:n.191G>A
  • NR_170900.1:n.191G>A
  • NR_170901.1:n.191G>A
  • NR_170902.1:n.191G>A
  • NR_170903.1:n.298G>A
  • NR_170904.1:n.191G>A
  • NR_170905.1:n.381G>A
  • NR_170906.1:n.298G>A
  • NR_170907.1:n.607G>A
  • NR_170908.1:n.298G>A
  • NR_170909.1:n.155G>A
  • NR_170910.1:n.381G>A
  • NR_170911.1:n.155G>A
  • NR_170912.1:n.381G>A
  • NR_170913.1:n.274G>A
  • NR_170914.1:n.298G>A
  • NR_170915.1:n.155G>A
  • NR_170916.1:n.191G>A
  • NR_170920.1:n.298G>A
  • NR_170921.1:n.191G>A
  • NR_170923.1:n.207G>A
  • NR_170924.1:n.207G>A
  • NR_170925.1:n.207G>A
  • NR_170926.1:n.207G>A
  • NR_170927.1:n.823G>A
  • NR_170928.1:n.839G>A
  • NR_170929.1:n.607G>A
Protein change:
R44Q
Molecular consequence:
  • NM_001145657.3:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001330383.3:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350524.2:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350525.2:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350526.2:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350527.2:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001350528.2:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388200.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388201.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388202.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388203.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388204.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388205.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388206.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388207.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388208.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388209.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388210.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388211.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388212.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388213.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388214.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388215.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388216.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388217.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388218.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388219.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388220.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388221.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388222.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388223.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388224.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388225.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388226.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388227.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388228.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388229.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388230.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388231.1:c.-81G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388233.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388234.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388235.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388236.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388237.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388238.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388239.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388240.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388242.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388243.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388244.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388245.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388246.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388247.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388248.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388249.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388250.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388251.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388252.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388253.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388254.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388255.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388256.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388258.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388259.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388261.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388263.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388264.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388266.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388267.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388269.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388270.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388273.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388276.1:c.-531G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388279.1:c.-531G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388280.1:c.-531G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388281.1:c.-531G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388284.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388285.1:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_002885.4:c.-62G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001388241.1:c.-18-6297G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001388283.1:c.-18-6297G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145658.3:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388282.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388286.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388287.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388288.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388289.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388290.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388291.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388292.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388293.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388294.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388295.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001388296.1:c.131G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_170899.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170900.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170901.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170902.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170903.1:n.298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170904.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170905.1:n.381G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170906.1:n.298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170907.1:n.607G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170908.1:n.298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170909.1:n.155G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170910.1:n.381G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170911.1:n.155G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170912.1:n.381G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170913.1:n.274G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170914.1:n.298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170915.1:n.155G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170916.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170920.1:n.298G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170921.1:n.191G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170923.1:n.207G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170924.1:n.207G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170925.1:n.207G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170926.1:n.207G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170927.1:n.823G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170928.1:n.839G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_170929.1:n.607G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004936122Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 11, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004936122.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.131G>A (p.R44Q) alteration is located in exon 3 (coding exon 3) of the RAP1GAP gene. This alteration results from a G to A substitution at nucleotide position 131, causing the arginine (R) at amino acid position 44 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024