NM_000282.4(PCCA):c.947T>G (p.Met316Arg) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 12, 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:: RCV000597665.4

Allele description [Variation Report for NM_000282.4(PCCA):c.947T>G (p.Met316Arg)]

NM_000282.4(PCCA):c.947T>G (p.Met316Arg)

Gene:

PCCA:propionyl-CoA carboxylase subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q32.3

Genomic location:

Preferred name:

NM_000282.4(PCCA):c.947T>G (p.Met316Arg)

HGVS:

NC_000013.11:g.100273228T>G
NG_008768.1:g.189146T>G
NM_000282.4:c.947T>GMANE SELECT
NM_001127692.3:c.869T>G
NM_001178004.2:c.947T>G
NM_001352605.2:c.947T>G
NM_001352606.2:c.947T>G
NM_001352607.2:c.869T>G
NM_001352608.2:c.869T>G
NM_001352609.2:c.947T>G
NM_001352610.2:c.2T>G
NM_001352611.2:c.2T>G
NM_001352612.2:c.2T>G
NP_000273.2:p.Met316Arg
NP_001121164.1:p.Met290Arg
NP_001171475.1:p.Met316Arg
NP_001339534.1:p.Met316Arg
NP_001339535.1:p.Met316Arg
NP_001339536.1:p.Met290Arg
NP_001339537.1:p.Met290Arg
NP_001339538.1:p.Met316Arg
NP_001339539.1:p.Met1Arg
NP_001339540.1:p.Met1Arg
NP_001339541.1:p.Met1Arg
NC_000013.10:g.100925482T>G
NR_148027.2:n.975T>G
NR_148028.2:n.975T>G
NR_148029.2:n.897T>G
NR_148030.2:n.975T>G
NR_148031.2:n.975T>G

Protein change:

M1R

Links:

dbSNP: rs137861347

NCBI 1000 Genomes Browser:

rs137861347

Molecular consequence:

NM_001352610.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001352611.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_001352612.2:c.2T>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
NM_000282.4:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001127692.3:c.869T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001178004.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352605.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352606.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352607.2:c.869T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352608.2:c.869T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352609.2:c.947T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352610.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352611.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001352612.2:c.2T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148027.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148028.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148029.2:n.897T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148030.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148031.2:n.975T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

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
SCV000703948	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely pathogenic (Jan 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000703948

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely pathogenic
(Jan 12, 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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000703948.3

#	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

Last Updated: Sep 29, 2024

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