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NM_014207.4(CD5):c.301C>T (p.Pro101Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 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:
RCV004343619.1

Allele description [Variation Report for NM_014207.4(CD5):c.301C>T (p.Pro101Ser)]

NM_014207.4(CD5):c.301C>T (p.Pro101Ser)

Gene:
CD5:CD5 molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q12.2
Genomic location:
Preferred name:
NM_014207.4(CD5):c.301C>T (p.Pro101Ser)
HGVS:
  • NC_000011.10:g.61118381C>T
  • NM_001346456.2:c.130C>T
  • NM_014207.4:c.301C>TMANE SELECT
  • NP_001333385.1:p.Pro44Ser
  • NP_055022.2:p.Pro101Ser
  • NC_000011.9:g.60885853C>T
  • NM_014207.3:c.301C>T
Protein change:
P101S
Molecular consequence:
  • NM_001346456.2:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014207.4:c.301C>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
SCV004077058Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Aug 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, SCV004077058.2

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

Description

The c.301C>T (p.P101S) alteration is located in exon 3 (coding exon 3) of the CD5 gene. This alteration results from a C to T substitution at nucleotide position 301, causing the proline (P) at amino acid position 101 to be replaced by a serine (S). 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