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NM_001136263.2(C2CD4C):c.481C>T (p.Arg161Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 14, 2021
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:
RCV004216415.1

Allele description [Variation Report for NM_001136263.2(C2CD4C):c.481C>T (p.Arg161Cys)]

NM_001136263.2(C2CD4C):c.481C>T (p.Arg161Cys)

Gene:
C2CD4C:C2 calcium dependent domain containing 4C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.3
Genomic location:
Preferred name:
NM_001136263.2(C2CD4C):c.481C>T (p.Arg161Cys)
HGVS:
  • NC_000019.10:g.407881G>A
  • NG_139748.1:g.972G>A
  • NM_001136263.2:c.481C>TMANE SELECT
  • NP_001129735.1:p.Arg161Cys
  • NC_000019.9:g.407881G>A
  • NM_001136263.1:c.481C>T
Protein change:
R161C
Molecular consequence:
  • NM_001136263.2:c.481C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003718797Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jul 14, 2021) 		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, SCV003718797.2

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

Description

The c.481C>T (p.R161C) alteration is located in exon 2 (coding exon 1) of the C2CD4C gene. This alteration results from a C to T substitution at nucleotide position 481, causing the arginine (R) at amino acid position 161 to be replaced by a cysteine (C). 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: Oct 26, 2024