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NM_001772.4(CD33):c.793G>C (p.Ala265Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 25, 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:
RCV004132939.1

Allele description [Variation Report for NM_001772.4(CD33):c.793G>C (p.Ala265Pro)]

NM_001772.4(CD33):c.793G>C (p.Ala265Pro)

Gene:
CD33:CD33 molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
NM_001772.4(CD33):c.793G>C (p.Ala265Pro)
HGVS:
  • NC_000019.10:g.51235204G>C
  • NM_001082618.2:c.412G>C
  • NM_001177608.2:c.793G>C
  • NM_001772.4:c.793G>CMANE SELECT
  • NP_001076087.1:p.Ala138Pro
  • NP_001171079.1:p.Ala265Pro
  • NP_001763.3:p.Ala265Pro
  • NC_000019.9:g.51738459G>C
  • NM_001772.3:c.793G>C
Protein change:
A138P
Molecular consequence:
  • NM_001082618.2:c.412G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177608.2:c.793G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001772.4:c.793G>C - 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
SCV003615837Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Apr 25, 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, SCV003615837.2

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

Description

The c.793G>C (p.A265P) alteration is located in exon 5 (coding exon 5) of the CD33 gene. This alteration results from a G to C substitution at nucleotide position 793, causing the alanine (A) at amino acid position 265 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: Oct 26, 2024