U.S. flag

An official website of the United States government

NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Oct 17, 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:
RCV000038855.5

Allele description [Variation Report for NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys)]

NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys)

Gene:
WHRN:whirlin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q32
Genomic location:
Preferred name:
NM_015404.4(WHRN):c.1158C>G (p.Asn386Lys)
HGVS:
  • NC_000009.12:g.114426219G>C
  • NG_016700.1:g.84238C>G
  • NM_001083885.3:c.9C>G
  • NM_001173425.2:c.1158C>G
  • NM_015404.4:c.1158C>GMANE SELECT
  • NP_001077354.2:p.Asn3Lys
  • NP_001166896.1:p.Asn386Lys
  • NP_056219.3:p.Asn386Lys
  • LRG_1094t1:c.1158C>G
  • LRG_1094:g.84238C>G
  • LRG_1094p1:p.Asn386Lys
  • NC_000009.11:g.117188499G>C
  • NM_015404.3:c.1158C>G
  • c.1158C>G
Protein change:
N386K
Links:
dbSNP: rs397517253
NCBI 1000 Genomes Browser:
rs397517253
Molecular consequence:
  • NM_001083885.3:c.9C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173425.2:c.1158C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015404.4:c.1158C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000062533Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Oct 17, 2011) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided11not 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, SCV000062533.6

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Asn386Lys in exon 4 of DFNB31: This variant is not expected to have clinical sig nificance because the Asn386 residue is not conserved across mammals and computa tional analyses (PolyPhen2, SIFT, AlignGVGD) do not suggest an impact to the pro tein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided1not provided1not provided

Last Updated: Dec 24, 2022