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NM_015404.4(WHRN):c.2046G>C (p.Arg682=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
Dec 21, 2011
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:
RCV000038883.6

Allele description [Variation Report for NM_015404.4(WHRN):c.2046G>C (p.Arg682=)]

NM_015404.4(WHRN):c.2046G>C (p.Arg682=)

Gene:
WHRN:whirlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q32
Genomic location:
Preferred name:
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)
HGVS:
  • NC_000009.12:g.114406545C>G
  • NG_016700.1:g.103912G>C
  • NM_001083885.3:c.897G>C
  • NM_001173425.2:c.2046G>C
  • NM_001346890.1:c.993G>C
  • NM_015404.4:c.2046G>CMANE SELECT
  • NP_001077354.2:p.Arg299=
  • NP_001166896.1:p.Arg682=
  • NP_001333819.1:p.Arg331=
  • NP_056219.3:p.Arg682=
  • LRG_1094t1:c.2046G>C
  • LRG_1094:g.103912G>C
  • LRG_1094p1:p.Arg682=
  • NC_000009.11:g.117168825C>G
  • NM_015404.2:c.2046G>C
  • NM_015404.3:c.2046G>C
  • c.2046G>C
  • p.Arg682Arg
Links:
dbSNP: rs35258467
NCBI 1000 Genomes Browser:
rs35258467
Molecular consequence:
  • NM_001083885.3:c.897G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001173425.2:c.2046G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001346890.1:c.993G>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_015404.4:c.2046G>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
5

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
SCV000062561Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Benign
(Dec 21, 2011) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided55not 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, Mass General Brigham Personalized Medicine, SCV000062561.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testing PubMed (1)

Description

The Arg682Arg variant is not expected to have clinical significance because it d oes not alter an amino acid residue, is not located within the splice consensus sequence, has been identified in 0.9% (42/4502) of chromosomes from a broad, tho ugh clinically unspecified population (dbSNP rs35258467).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided5not provided5not provided

Last Updated: Sep 29, 2024