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NM_001240.4(CCNT1):c.1994A>C (p.His665Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 2, 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:
RCV004284671.1

Allele description [Variation Report for NM_001240.4(CCNT1):c.1994A>C (p.His665Pro)]

NM_001240.4(CCNT1):c.1994A>C (p.His665Pro)

Gene:
CCNT1:cyclin T1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.11
Genomic location:
Preferred name:
NM_001240.4(CCNT1):c.1994A>C (p.His665Pro)
HGVS:
  • NC_000012.12:g.48693220T>G
  • NM_001240.4:c.1994A>CMANE SELECT
  • NM_001277842.2:c.*1275A>C
  • NM_001413198.1:c.1799A>C
  • NM_001413199.1:c.1784A>C
  • NM_001413200.1:c.1139A>C
  • NP_001231.2:p.His665Pro
  • NP_001400127.1:p.His600Pro
  • NP_001400128.1:p.His595Pro
  • NP_001400129.1:p.His380Pro
  • NC_000012.11:g.49087003T>G
  • NM_001240.2:c.1994A>C
  • NR_182118.1:n.1955A>C
  • NR_182119.1:n.1528A>C
Protein change:
H380P
Molecular consequence:
  • NM_001277842.2:c.*1275A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001240.4:c.1994A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413198.1:c.1799A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413199.1:c.1784A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001413200.1:c.1139A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_182118.1:n.1955A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_182119.1:n.1528A>C - 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
SCV003913970Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 2, 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, SCV003913970.2

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

Description

The c.1994A>C (p.H665P) alteration is located in exon 9 (coding exon 9) of the CCNT1 gene. This alteration results from a A to C substitution at nucleotide position 1994, causing the histidine (H) at amino acid position 665 to be replaced by a proline (P). 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: Nov 10, 2024