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NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=) AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
May 9, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000217370.5

Allele description [Variation Report for NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)]

NM_005219.5(DIAPH1):c.2067A>C (p.Pro689=)

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.2067A>C (p.Pro689=)
HGVS:
  • NC_000005.10:g.141573783T>G
  • NG_011594.2:g.50273A>C
  • NM_001079812.3:c.2040A>C
  • NM_001314007.2:c.2067A>C
  • NM_005219.5:c.2067A>CMANE SELECT
  • NP_001073280.1:p.Pro680=
  • NP_001300936.1:p.Pro689=
  • NP_005210.3:p.Pro689=
  • LRG_1117t1:c.2040A>C
  • LRG_1117t2:c.2067A>C
  • LRG_1117:g.50273A>C
  • LRG_1117p1:p.Pro680=
  • LRG_1117p2:p.Pro689=
  • NC_000005.9:g.140953350T>G
  • NG_011594.1:g.50273A>C
  • NM_005219.4:c.2067A>C
  • p.Pro689Pro
Links:
dbSNP: rs876657451
NCBI 1000 Genomes Browser:
rs876657451
Molecular consequence:
  • NM_001079812.3:c.2040A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001314007.2:c.2067A>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_005219.5:c.2067A>C - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000270118Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
criteria provided, single submitter

(LMM Criteria)		Likely benign
(Jan 6, 2016) 		germlineclinical testing

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

SCV000717812GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 9, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
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, SCV000270118.2

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

Description

p.Pro689Pro in exon 16 of DIAPH1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.

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

From GeneDx, SCV000717812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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

Last Updated: Sep 29, 2024