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NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 19, 2020
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:
RCV001564791.4

Allele description [Variation Report for NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)]

NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)

Gene:
CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
HGVS:
  • NC_000002.12:g.174764393A>G
  • NG_008172.1:g.5080T>C
  • NM_000079.4:c.2T>CMANE SELECT
  • NM_001039523.3:c.2T>C
  • NP_000070.1:p.Met1Thr
  • NP_001034612.1:p.Met1Thr
  • NC_000002.11:g.175629121A>G
  • NM_000079.3:c.2T>C
Protein change:
M1T
Links:
dbSNP: rs779169597
NCBI 1000 Genomes Browser:
rs779169597
Molecular consequence:
  • NM_000079.4:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_001039523.3:c.2T>C - initiator_codon_variant - [Sequence Ontology: SO:0001582]
  • NM_000079.4:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001039523.3:c.2T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001788008GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Likely pathogenic
(Nov 19, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV001788008.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Initiation codon variant in a gene for which loss-of-function is a known mechanism of disease; Has not been previously published as pathogenic or benign to our knowledge

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024