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NM_144611.4(CYB5D2):c.269C>T (p.Ala90Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 4, 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:
RCV004168575.1

Allele description [Variation Report for NM_144611.4(CYB5D2):c.269C>T (p.Ala90Val)]

NM_144611.4(CYB5D2):c.269C>T (p.Ala90Val)

Gene:
CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_144611.4(CYB5D2):c.269C>T (p.Ala90Val)
HGVS:
  • NC_000017.11:g.4149909C>T
  • NM_001254755.2:c.-68C>T
  • NM_001254756.1:c.-68C>T
  • NM_144611.4:c.269C>TMANE SELECT
  • NP_653212.1:p.Ala90Val
  • NC_000017.10:g.4053203C>T
  • NM_144611.3:c.269C>T
  • NR_023346.1:n.615C>T
  • NR_023347.1:n.165C>T
Protein change:
A90V
Molecular consequence:
  • NM_001254755.2:c.-68C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001254756.1:c.-68C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_144611.4:c.269C>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
SCV003658311Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 4, 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, SCV003658311.2

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

Description

The c.269C>T (p.A90V) alteration is located in exon 2 (coding exon 2) of the CYB5D2 gene. This alteration results from a C to T substitution at nucleotide position 269, causing the alanine (A) at amino acid position 90 to be replaced by a valine (V). 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