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NM_052848.3(CCDC97):c.187G>T (p.Val63Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 14, 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:
RCV004343214.1

Allele description [Variation Report for NM_052848.3(CCDC97):c.187G>T (p.Val63Leu)]

NM_052848.3(CCDC97):c.187G>T (p.Val63Leu)

Gene:
CCDC97:coiled-coil domain containing 97 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
Preferred name:
NM_052848.3(CCDC97):c.187G>T (p.Val63Leu)
HGVS:
  • NC_000019.10:g.41316524G>T
  • NM_001346100.2:c.-9G>T
  • NM_052848.3:c.187G>TMANE SELECT
  • NP_443080.1:p.Val63Leu
  • NC_000019.9:g.41822429G>T
  • NM_052848.1:c.187G>T
Protein change:
V63L
Molecular consequence:
  • NM_001346100.2:c.-9G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_052848.3:c.187G>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
SCV004062069Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 14, 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, SCV004062069.2

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

Description

The c.187G>T (p.V63L) alteration is located in exon 2 (coding exon 2) of the CCDC97 gene. This alteration results from a G to T substitution at nucleotide position 187, causing the valine (V) at amino acid position 63 to be replaced by a leucine (L). 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