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NM_058241.3(CCNT2):c.107G>A (p.Cys36Tyr) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 22, 2023
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:
RCV004432906.1

Allele description [Variation Report for NM_058241.3(CCNT2):c.107G>A (p.Cys36Tyr)]

NM_058241.3(CCNT2):c.107G>A (p.Cys36Tyr)

Genes:
LOC129934828:ATAC-STARR-seq lymphoblastoid active region 16568 [Gene]
CCNT2:cyclin T2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q21.3
Genomic location:
Preferred name:
NM_058241.3(CCNT2):c.107G>A (p.Cys36Tyr)
HGVS:
  • NC_000002.12:g.134918961G>A
  • NG_029189.1:g.5140G>A
  • NG_167844.1:g.210G>A
  • NM_001241.4:c.107G>A
  • NM_001320748.2:c.-420G>A
  • NM_001320749.2:c.-506G>A
  • NM_058241.3:c.107G>AMANE SELECT
  • NP_001232.1:p.Cys36Tyr
  • NP_490595.1:p.Cys36Tyr
  • NC_000002.11:g.135676531G>A
  • NM_058241.2:c.107G>A
  • NR_037649.2:n.140G>A
  • NR_135468.2:n.140G>A
Protein change:
C36Y
Molecular consequence:
  • NM_001320748.2:c.-420G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001320749.2:c.-506G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001241.4:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_058241.3:c.107G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_037649.2:n.140G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135468.2:n.140G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV004922751Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Sep 22, 2023) 		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, SCV004922751.1

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

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: May 7, 2024