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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000453371	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Apr 27, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000453371

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Likely benign
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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