NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=) AND not provided

Clinical significance:Benign (Last evaluated: Nov 18, 2020)

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:
RCV000975072.5

Allele description [Variation Report for NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)]

NM_032119.4(ADGRV1):c.11568T>C (p.Val3856=)

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.11568T>C (p.Val3856=)
HGVS:
  • NC_000005.10:g.90755173T>C
  • NG_007083.2:g.230830T>C
  • NM_032119.4:c.11568T>CMANE SELECT
  • NP_115495.3:p.Val3856=
  • LRG_1095t1:c.11568T>C
  • LRG_1095:g.230830T>C
  • LRG_1095p1:p.Val3856=
  • NC_000005.9:g.90050990T>C
  • NM_032119.3:c.11568T>C
  • NR_003149.2:n.11584T>C
  • p.Val3856Val
Links:
dbSNP: rs143004930
NCBI 1000 Genomes Browser:
rs143004930
Molecular consequence:
  • NR_003149.2:n.11584T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_032119.4:c.11568T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000727298GeneDxcriteria provided, single submitter
Benign
(Sep 10, 2019)
germlineclinical testing

Citation Link,

SCV001122949Invitaecriteria provided, single submitter
Benign
(Nov 18, 2020)
germlineclinical testing

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

SCV001974296Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus

See additional submitters

no assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From GeneDx, SCV000727298.2

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

From Invitae, SCV001122949.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001974296.1

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

Last Updated: Oct 6, 2021

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