NM_015404.4(WHRN):c.1887G>A (p.Pro629=) AND not specified

Clinical significance:Likely benign (Last evaluated: Jan 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000219020.2

Allele description [Variation Report for NM_015404.4(WHRN):c.1887G>A (p.Pro629=)]

NM_015404.4(WHRN):c.1887G>A (p.Pro629=)

Gene:
WHRN:whirlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q32
Genomic location:
Preferred name:
NM_015404.4(WHRN):c.1887G>A (p.Pro629=)
HGVS:
  • NC_000009.12:g.114406704C>T
  • NG_016700.1:g.103753G>A
  • NM_001083885.2:c.738G>A
  • NM_001173425.2:c.1887G>A
  • NM_001346890.1:c.834G>A
  • NM_015404.4:c.1887G>AMANE SELECT
  • NP_001077354.2:p.Pro246=
  • NP_001166896.1:p.Pro629=
  • NP_001333819.1:p.Pro278=
  • NP_056219.3:p.Pro629=
  • LRG_1094t1:c.1887G>A
  • LRG_1094:g.103753G>A
  • LRG_1094p1:p.Pro629=
  • NC_000009.11:g.117168984C>T
  • NM_015404.3:c.1887G>A
  • p.Pro629Pro
Links:
dbSNP: rs143443833
NCBI 1000 Genomes Browser:
rs143443833
Molecular consequence:
  • NM_001083885.2:c.738G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173425.2:c.1887G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001346890.1:c.834G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015404.4:c.1887G>A - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

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
SCV000270104Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicinecriteria provided, single submitter
Likely benign
(Jan 13, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not 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, SCV000270104.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

p.Pro629Pro in Exon 09 of DFNB31: This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located wit hin the splice consensus sequence, and has been identified in 17/65994 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs143443833).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Jul 7, 2021

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