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NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 17, 2022
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:
RCV002900929.2

Allele description [Variation Report for NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp)]

NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp)

Gene:
CORO1A:coronin 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p11.2
Genomic location:
Preferred name:
NM_007074.4(CORO1A):c.361C>T (p.Arg121Trp)
HGVS:
  • NC_000016.10:g.30186855C>T
  • NG_023415.1:g.8251C>T
  • NG_133603.1:g.368C>T
  • NM_001193333.3:c.361C>T
  • NM_007074.4:c.361C>TMANE SELECT
  • NP_001180262.1:p.Arg121Trp
  • NP_001180262.1:p.Arg121Trp
  • NP_009005.1:p.Arg121Trp
  • LRG_195t1:c.361C>T
  • LRG_195:g.8251C>T
  • LRG_195p1:p.Arg121Trp
  • NC_000016.9:g.30198176C>T
  • NM_001193333.1:c.361C>T
  • NM_007074.3:c.361C>T
Protein change:
R121W
Molecular consequence:
  • NM_001193333.3:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007074.4:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003637067Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 17, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV003637067.2

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

Description

The c.361C>T (p.R121W) alteration is located in exon 4 (coding exon 3) of the CORO1A gene. This alteration results from a C to T substitution at nucleotide position 361, causing the arginine (R) at amino acid position 121 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024