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NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) AND Autosomal dominant nonsyndromic hearing loss 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000281485.5

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)]

NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)

Gene:
DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)
HGVS:
  • NC_000005.10:g.141573818G>A
  • NG_011594.2:g.50238C>T
  • NM_001079812.3:c.2005C>T
  • NM_001314007.2:c.2032C>T
  • NM_005219.5:c.2032C>TMANE SELECT
  • NP_001073280.1:p.Pro669Ser
  • NP_001300936.1:p.Pro678Ser
  • NP_005210.3:p.Pro678Ser
  • LRG_1117t1:c.2005C>T
  • LRG_1117t2:c.2032C>T
  • LRG_1117:g.50238C>T
  • LRG_1117p1:p.Pro669Ser
  • LRG_1117p2:p.Pro678Ser
  • NC_000005.9:g.140953385G>A
  • NG_011594.1:g.50238C>T
  • NM_005219.4:c.2032C>T
Protein change:
P669S
Links:
dbSNP: rs186370335
NCBI 1000 Genomes Browser:
rs186370335
Molecular consequence:
  • NM_001079812.3:c.2005C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001314007.2:c.2032C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005219.5:c.2032C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal dominant nonsyndromic hearing loss 1
Synonyms:
KONIGSMARK SYNDROME; Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
Identifiers:
MONDO: MONDO:0007424; MedGen: C1852282; Orphanet: 90635; OMIM: 124900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000453371Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

Baek JI, Oh SK, Kim DB, Choi SY, Kim UK, Lee KY, Lee SH.

Orphanet J Rare Dis. 2012 Sep 3;7:60. doi: 10.1186/1750-1172-7-60.

PubMed [citation]
PMID:
22938506
PMCID:
PMC3495859

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000453371.3

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

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

Last Updated: Oct 13, 2024