NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile) AND not provided

Germline classification:: Uncertain significance (1 submission)
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:: RCV004691411.1

Allele description [Variation Report for NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile)]

NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile)

Gene:

COPA:COPI coat complex subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

NM_004371.4(COPA):c.3422C>T (p.Thr1141Ile)

HGVS:

NC_000001.11:g.160290685G>A
NG_050927.1:g.57880C>T
NM_001098398.2:c.3449C>T
NM_004371.4:c.3422C>TMANE SELECT
NP_001091868.1:p.Thr1150Ile
NP_004362.2:p.Thr1141Ile
LRG_1336t1:c.3422C>T
LRG_1336:g.57880C>T
LRG_1336p1:p.Thr1141Ile
NC_000001.10:g.160260475G>A

Protein change:

T1141I

Links:

dbSNP: rs1389932827

NCBI 1000 Genomes Browser:

rs1389932827

Molecular consequence:

NM_001098398.2:c.3449C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_004371.4:c.3422C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV005187005	Breakthrough Genomics, Breakthrough Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	germline	not provided	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005187005

Breakthrough Genomics, Breakthrough Genomics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

germline

not provided

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	yes	not provided	not provided	not provided	not provided	not provided	not provided

Citations

PubMed

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 Breakthrough Genomics, Breakthrough Genomics, SCV005187005.1

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

#	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: Nov 3, 2024

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