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NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 29, 2022
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:
RCV002570345.2

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)]

NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)

Gene:
RPGRIP1L:RPGRIP1 like [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q12.2
Genomic location:
Preferred name:
NM_015272.5(RPGRIP1L):c.1603C>T (p.Arg535Cys)
HGVS:
  • NC_000016.10:g.53656568G>A
  • NG_008991.2:g.52292C>T
  • NM_001127897.4:c.1603C>T
  • NM_001308334.3:c.1603C>T
  • NM_001330538.2:c.1603C>T
  • NM_015272.5:c.1603C>TMANE SELECT
  • NP_001121369.1:p.Arg535Cys
  • NP_001295263.1:p.Arg535Cys
  • NP_001317467.1:p.Arg535Cys
  • NP_056087.2:p.Arg535Cys
  • LRG_696t1:c.1603C>T
  • LRG_696t2:c.1603C>T
  • LRG_696:g.52292C>T
  • LRG_696p1:p.Arg535Cys
  • LRG_696p2:p.Arg535Cys
  • NC_000016.9:g.53690480G>A
  • NC_000016.9:g.53690480G>A
  • NM_015272.2:c.1603C>T
  • NM_015272.4:c.1603C>T
Protein change:
R535C
Links:
dbSNP: rs149781516
NCBI 1000 Genomes Browser:
rs149781516
Molecular consequence:
  • NM_001127897.4:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308334.3:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330538.2:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015272.5:c.1603C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003607045Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 29, 2022) 		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, SCV003607045.2

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

Description

The c.1603C>T (p.R535C) alteration is located in exon 14 (coding exon 13) of the RPGRIP1L gene. This alteration results from a C to T substitution at nucleotide position 1603, causing the arginine (R) at amino acid position 535 to be replaced by a cysteine (C). 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: Nov 24, 2024