NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 6, 2016
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:: RCV000607967.4

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)]

NM_005219.5(DIAPH1):c.2200G>A (p.Gly734Arg)

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.2200G>A (p.Gly734Arg)

HGVS:

NC_000005.10:g.141573650C>T
NG_011594.2:g.50406G>A
NM_001079812.3:c.2173G>A
NM_001314007.2:c.2200G>A
NM_005219.5:c.2200G>AMANE SELECT
NP_001073280.1:p.Gly725Arg
NP_001300936.1:p.Gly734Arg
NP_005210.3:p.Gly734Arg
LRG_1117t1:c.2173G>A
LRG_1117t2:c.2200G>A
LRG_1117:g.50406G>A
LRG_1117p1:p.Gly725Arg
LRG_1117p2:p.Gly734Arg
NC_000005.9:g.140953217C>T
NG_011594.1:g.50406G>A
NM_005219.4:c.2200G>A

Protein change:

G725R

Links:

dbSNP: rs374788809

NCBI 1000 Genomes Browser:

rs374788809

Molecular consequence:

NM_001079812.3:c.2173G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001314007.2:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005219.5:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000711017	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Uncertain significance (Oct 6, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 26011067, 23804846, 24033266

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000711017

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Uncertain significance
(Oct 6, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.

Chen Y, Wang Z, Wang Z, Chen D, Chai Y, Pang X, Sun L, Wang X, Yang T, Wu H.

PLoS One. 2015;10(5):e0127879. doi: 10.1371/journal.pone.0127879.

PubMed [citation]

PMID:: 26011067
PMCID:: PMC4444116

Advancing genetic testing for deafness with genomic technology.

Shearer AE, Black-Ziegelbein EA, Hildebrand MS, Eppsteiner RW, Ravi H, Joshi S, Guiffre AC, Sloan CM, Happe S, Howard SD, Novak B, Deluca AP, Taylor KR, Scheetz TE, Braun TA, Casavant TL, Kimberling WJ, Leproust EM, Smith RJ.

J Med Genet. 2013 Sep;50(9):627-34. doi: 10.1136/jmedgenet-2013-101749. Epub 2013 Jun 26.

PubMed [citation]

PMID:: 23804846
PMCID:: PMC3887546

See all PubMed Citations (3)

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000711017.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (3)

Description

The p.Gly734Arg variant in DIAPH1 has been previously been reported in two indiv iduals with hearing loss (Chen 2015, Shearer 2013); however, it has also been id entified in 7/61284 European chromosomes and 2/7736 East Asian chromosomes by th e Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs37 4788809). Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly734Arg variant is uncertain.

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

Last Updated: Mar 5, 2024

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