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NM_052848.3(CCDC97):c.620C>A (p.Pro207His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 26, 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:
RCV004214600.1

Allele description [Variation Report for NM_052848.3(CCDC97):c.620C>A (p.Pro207His)]

NM_052848.3(CCDC97):c.620C>A (p.Pro207His)

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.620C>A (p.Pro207His)
HGVS:
  • NC_000019.10:g.41319691C>A
  • NM_001346100.2:c.425C>A
  • NM_052848.3:c.620C>AMANE SELECT
  • NP_001333029.1:p.Pro142His
  • NP_443080.1:p.Pro207His
  • NC_000019.9:g.41825596C>A
  • NM_052848.1:c.620C>A
Protein change:
P142H
Molecular consequence:
  • NM_001346100.2:c.425C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_052848.3:c.620C>A - 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
SCV003706274Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 26, 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, SCV003706274.2

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

Description

The c.620C>A (p.P207H) alteration is located in exon 3 (coding exon 3) of the CCDC97 gene. This alteration results from a C to A substitution at nucleotide position 620, causing the proline (P) at amino acid position 207 to be replaced by a histidine (H). 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