NM_012472.6(DNAAF11):c.947A>C (p.Gln316Pro) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 19, 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:: RCV000788139.2

Allele description [Variation Report for NM_012472.6(DNAAF11):c.947A>C (p.Gln316Pro)]

NM_012472.6(DNAAF11):c.947A>C (p.Gln316Pro)

Gene:

DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

Preferred name:

NM_012472.6(DNAAF11):c.947A>C (p.Gln316Pro)

HGVS:

NC_000008.11:g.132615065T>G
NG_033068.1:g.65553A>C
NM_001321961.2:c.915-3702A>C
NM_001321962.2:c.701A>C
NM_001321963.2:c.587A>C
NM_001321964.2:c.587A>C
NM_001321965.2:c.587A>C
NM_001321966.2:c.555-3702A>C
NM_012472.6:c.947A>CMANE SELECT
NP_001308891.1:p.Gln234Pro
NP_001308892.1:p.Gln196Pro
NP_001308893.1:p.Gln196Pro
NP_001308894.1:p.Gln196Pro
NP_036604.2:p.Gln316Pro
NC_000008.10:g.133627311T>G
NM_012472.4:c.947A>C
NR_073525.3:n.999A>C
NR_135905.2:n.1088A>C
NR_135906.2:n.529A>C
NR_135907.2:n.775A>C
NR_135909.2:n.985A>C
NR_135910.2:n.1335A>C
NR_135911.2:n.1455A>C
NR_135912.2:n.2014A>C
NR_135913.2:n.1701A>C

Protein change:

Q196P

Links:

dbSNP: rs773789654

NCBI 1000 Genomes Browser:

rs773789654

Molecular consequence:

NM_001321961.2:c.915-3702A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001321966.2:c.555-3702A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001321962.2:c.701A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321963.2:c.587A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321964.2:c.587A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001321965.2:c.587A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_012472.6:c.947A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_073525.3:n.999A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135905.2:n.1088A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135906.2:n.529A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135907.2:n.775A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135909.2:n.985A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135910.2:n.1335A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135911.2:n.1455A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135912.2:n.2014A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_135913.2:n.1701A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000927158	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Uncertain significance (Feb 19, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000927158

Blueprint Genetics

criteria provided, single submitter

(Blueprint Genetics Variant Classification Scheme)

Uncertain significance
(Feb 19, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV000927158.1

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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