NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) AND not specified

Germline classification:: Likely benign (1 submission)
Last evaluated:: Dec 14, 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:: RCV000221724.7

Allele description [Variation Report for NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)]

NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)

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.1736G>A (p.Arg579His)

HGVS:

NC_000005.10:g.141574114C>T
NG_011594.2:g.49942G>A
NM_001079812.3:c.1709G>A
NM_001314007.2:c.1736G>A
NM_005219.5:c.1736G>AMANE SELECT
NP_001073280.1:p.Arg570His
NP_001300936.1:p.Arg579His
NP_005210.3:p.Arg579His
LRG_1117t1:c.1709G>A
LRG_1117t2:c.1736G>A
LRG_1117:g.49942G>A
LRG_1117p1:p.Arg570His
LRG_1117p2:p.Arg579His
NC_000005.9:g.140953681C>T
NG_011594.1:g.49942G>A
NM_005219.4:c.1736G>A

Protein change:

R570H

Links:

dbSNP: rs182139018

NCBI 1000 Genomes Browser:

rs182139018

Molecular consequence:

NM_001079812.3:c.1709G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001314007.2:c.1736G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005219.5:c.1736G>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
SCV000270116	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Likely benign (Dec 14, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000270116

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Likely benign
(Dec 14, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	4	4	not provided	not provided	not provided	clinical 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, SCV000270116.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

Description

p.Arg579His in exon 16 of DIAPH1: This variant is not expected to have clinical significance because it has been identified in 0.17% (210/126644) of European c hromosomes and in 0.28% (71/25790) of Finnish chromosomes by the Genome Aggregat ion Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs182139018). In addition, computational prediction tools and conservation analyses suggest that the p.Arg579His variant may not impact the protein.

#	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		4	not provided	4	not provided

Last Updated: Oct 20, 2024

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