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

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 10, 2018
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:: RCV001705775.9

Allele description

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]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Homo sapiens glucuronidase beta (GUSB), transcript variant X4, mRNA
PREDICTED: Homo sapiens glucuronidase beta (GUSB), transcript variant X4, mRNA
gi|2462613969|ref|XM_054358034.1|

Nucleotide
prickle-like protein 2 isoform X1 [Rattus norvegicus]
prickle-like protein 2 isoform X1 [Rattus norvegicus]
gi|1958769613|ref|XP_038963548.1|

Protein
Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA
Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA
gi|154759243|ref|NR_003682.1|

Nucleotide
PREDICTED: Homo sapiens PHD finger protein 20 (PHF20), transcript variant X4, mR...
PREDICTED: Homo sapiens PHD finger protein 20 (PHF20), transcript variant X4, mRNA
gi|2217335254|ref|XM_017027868.3|

Nucleotide
zt43b04.s1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:725071 3', mRN...
zt43b04.s1 Soares ovary tumor NbHOT Homo sapiens cDNA clone IMAGE:725071 3', mRNA sequence
gi|2058804|gnl|dbEST|1045607|gb|AA4 .1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001864584	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Benign (Nov 10, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001864584

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Benign
(Nov 10, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV001864584.1

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

Last Updated: Sep 16, 2024

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