NM_000066.4(C8B):c.1337C>T (p.Ala446Val) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 23, 2024
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:
RCV004607244.1

Allele description [Variation Report for NM_000066.4(C8B):c.1337C>T (p.Ala446Val)]

NM_000066.4(C8B):c.1337C>T (p.Ala446Val)

Gene:
C8B:complement C8 beta chain [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.2
Genomic location:
Preferred name:
NM_000066.4(C8B):c.1337C>T (p.Ala446Val)
HGVS:
  • NC_000001.11:g.56940910G>A
  • NG_007285.1:g.30106C>T
  • NM_000066.4:c.1337C>TMANE SELECT
  • NM_001278543.2:c.1181C>T
  • NM_001278544.2:c.1151C>T
  • NP_000057.1:p.Ala446Val
  • NP_000057.3:p.Ala446Val
  • NP_001265472.2:p.Ala394Val
  • NP_001265473.2:p.Ala384Val
  • LRG_31t1:c.1337C>T
  • LRG_31:g.30106C>T
  • LRG_31p1:p.Ala446Val
  • NC_000001.10:g.57406583G>A
  • NM_000066.2:c.1337C>T
Protein change:
A384V
Molecular consequence:
  • NM_000066.4:c.1337C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278543.2:c.1181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278544.2:c.1151C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005095895Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 23, 2024) 		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, SCV005095895.1

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

Description

The c.1337C>T (p.A446V) alteration is located in exon 9 (coding exon 9) of the C8B gene. This alteration results from a C to T substitution at nucleotide position 1337, causing the alanine (A) at amino acid position 446 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: Aug 11, 2024