NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu) AND not specified

Clinical significance:Benign (Last evaluated: Mar 21, 2014)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000039525.8

Allele description [Variation Report for NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)]

NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)

Gene:
ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q14.3
Genomic location:
Preferred name:
NM_032119.4(ADGRV1):c.14029T>C (p.Phe4677Leu)
Other names:
p.F4677L:TTT>CTT
HGVS:
  • NC_000005.10:g.90789837T>C
  • NG_007083.2:g.265494T>C
  • NM_032119.4:c.14029T>CMANE SELECT
  • NP_115495.3:p.Phe4677Leu
  • LRG_1095t1:c.14029T>C
  • LRG_1095:g.265494T>C
  • LRG_1095p1:p.Phe4677Leu
  • NC_000005.9:g.90085654T>C
  • NM_032119.3:c.14029T>C
  • NR_003149.2:n.14045T>C
  • c.14029T>C
Protein change:
F4677L
Links:
dbSNP: rs62000408
NCBI 1000 Genomes Browser:
rs62000408
Molecular consequence:
  • NM_032119.4:c.14029T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_003149.2:n.14045T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
43

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000063214Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Benign
(Jul 25, 2013)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000168725GeneDxcriteria provided, single submitter
Benign
(Mar 21, 2014)
germlineclinical testing

Citation Link,

SCV000193238Genetic Services Laboratory,University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed

SCV000193238

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot provided4343not providednot providednot providedclinical testing

Citations

PubMed

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]
PMID:
24033266
PMCID:
PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, SCV000063214.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided43not providednot providedclinical testing PubMed (1)

Description

This variant is not expected to have clinical significance because it is has bee n identified in 11% (317/2884) of African American chromosomes from a broad popu lation by the NHLBI Exome sequencing project (http://evs.gs.washington.edu/EVS/; dbSNP rs62000408).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided43not provided43not provided

From GeneDx, SCV000168725.10

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

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

From Genetic Services Laboratory,University of Chicago, SCV000193238.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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