NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp) AND not specified

Germline classification:: Benign (3 submissions)
Last evaluated:: Jul 22, 2015
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:: RCV000081941.26

Allele description [Variation Report for NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)]

NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)

Gene:

DNAAF2:dynein axonemal assembly factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q21.3

Genomic location:

Preferred name:

NM_018139.3(DNAAF2):c.186G>C (p.Glu62Asp)

HGVS:

NC_000014.9:g.49634964C>G
NG_013070.1:g.5267G>C
NM_001083908.2:c.186G>C
NM_018139.3:c.186G>CMANE SELECT
NP_001077377.1:p.Glu62Asp
NP_060609.2:p.Glu62Asp
NP_060609.2:p.Glu62Asp
NC_000014.8:g.50101682C>G
NM_018139.2:c.186G>C
Q9NVR5:p.Glu62Asp

Protein change:

E62D

Links:

UniProtKB: Q9NVR5#VAR_057788; dbSNP: rs2985684

NCBI 1000 Genomes Browser:

rs2985684

Molecular consequence:

NM_001083908.2:c.186G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_018139.3:c.186G>C - 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
SCV000113876	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Benign (Jul 22, 2015)	germline	clinical testing	Citation Link,
SCV000205176	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Feb 21, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000313195	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign	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

SCV000113876

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Benign
(Jul 22, 2015)

germline

clinical testing

Citation Link,

SCV000205176

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Feb 21, 2013)

germline

clinical testing

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

SCV000313195

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign

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	77	74	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	2	not provided	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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113876.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

#	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		2	not provided	not provided	not provided

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000205176.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	77	not provided	not provided	clinical testing	PubMed (1)

Description

Glu62Asp in exon 1 of DNAAF2: This variant is not expected to have clinical sign ificance because it has been identified in 42.6% (1571/3688) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs2985684).

#	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		77	not provided	74	not provided

From PreventionGenetics, part of Exact Sciences, SCV000313195.1

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

#	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: Jun 17, 2024

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