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NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 17, 2016
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:
RCV000414436.1

Allele description [Variation Report for NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)]

NM_015272.5(RPGRIP1L):c.2815G>A (p.Glu939Lys)

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.2815G>A (p.Glu939Lys)
HGVS:
  • NC_000016.10:g.53641344C>T
  • NG_008991.2:g.67516G>A
  • NM_001127897.4:c.2815G>A
  • NM_001308334.3:c.2815G>A
  • NM_001330538.2:c.2815G>A
  • NM_015272.5:c.2815G>AMANE SELECT
  • NP_001121369.1:p.Glu939Lys
  • NP_001295263.1:p.Glu939Lys
  • NP_001317467.1:p.Glu939Lys
  • NP_056087.2:p.Glu939Lys
  • LRG_696t1:c.2815G>A
  • LRG_696t2:c.2815G>A
  • LRG_696:g.67516G>A
  • LRG_696p1:p.Glu939Lys
  • LRG_696p2:p.Glu939Lys
  • NC_000016.9:g.53675256C>T
  • NM_015272.2:c.2815G>A
Protein change:
E939K
Links:
dbSNP: rs371763050
NCBI 1000 Genomes Browser:
rs371763050
Molecular consequence:
  • NM_001127897.4:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001308334.3:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330538.2:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015272.5:c.2815G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000491771GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Nov 17, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000491771.1

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

Description

A variant of uncertain significance has been identified in the RPGRIP1L gene. The E939K variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The E939K variant was not observed with any significant frequency in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The E939K variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024