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NM_001017437.5(CCDC157):c.1801C>T (p.Arg601Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 2, 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:
RCV004434936.1

Allele description [Variation Report for NM_001017437.5(CCDC157):c.1801C>T (p.Arg601Trp)]

NM_001017437.5(CCDC157):c.1801C>T (p.Arg601Trp)

Genes:
KIAA1656:KIAA1656 protein [Gene]
CCDC157:coiled-coil domain containing 157 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.2
Genomic location:
Preferred name:
NM_001017437.5(CCDC157):c.1801C>T (p.Arg601Trp)
HGVS:
  • NC_000022.11:g.30375607C>T
  • NM_001017437.5:c.1801C>TMANE SELECT
  • NM_001318334.2:c.1801C>T
  • NP_001017437.3:p.Arg601Trp
  • NP_001305263.2:p.Arg601Trp
  • NC_000022.10:g.30771596C>T
  • NM_001017437.2:c.1801C>T
  • NR_046312.1:n.809G>A
Protein change:
R601W
Molecular consequence:
  • NM_001017437.5:c.1801C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318334.2:c.1801C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046312.1:n.809G>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
SCV004918869Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 2, 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, SCV004918869.1

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

Description

The c.1801C>T (p.R601W) alteration is located in exon 10 (coding exon 8) of the CCDC157 gene. This alteration results from a C to T substitution at nucleotide position 1801, causing the arginine (R) at amino acid position 601 to be replaced by a tryptophan (W). 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: May 7, 2024