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NM_001250.6(CD40):c.386T>G (p.Phe129Cys) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 20, 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:
RCV003191407.2

Allele description [Variation Report for NM_001250.6(CD40):c.386T>G (p.Phe129Cys)]

NM_001250.6(CD40):c.386T>G (p.Phe129Cys)

Gene:
CD40:CD40 molecule [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_001250.6(CD40):c.386T>G (p.Phe129Cys)
HGVS:
  • NC_000020.11:g.46122739T>G
  • NG_007279.1:g.9473T>G
  • NM_001250.6:c.386T>GMANE SELECT
  • NM_001302753.2:c.386T>G
  • NM_001322421.2:c.386T>G
  • NM_001322422.2:c.386T>G
  • NM_001362758.2:c.386T>G
  • NM_152854.4:c.386T>G
  • NP_001241.1:p.Phe129Cys
  • NP_001241.1:p.Phe129Cys
  • NP_001289682.1:p.Phe129Cys
  • NP_001309350.1:p.Phe129Cys
  • NP_001309351.1:p.Phe129Cys
  • NP_001349687.1:p.Phe129Cys
  • NP_690593.1:p.Phe129Cys
  • LRG_40t1:c.386T>G
  • LRG_40:g.9473T>G
  • LRG_40p1:p.Phe129Cys
  • NC_000020.10:g.44751378T>G
  • NM_001250.4:c.386T>G
  • NR_126502.2:n.416T>G
  • NR_136327.2:n.416T>G
Protein change:
F129C
Molecular consequence:
  • NM_001250.6:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001302753.2:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322421.2:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322422.2:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001362758.2:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_152854.4:c.386T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_126502.2:n.416T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_136327.2:n.416T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003897982Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 20, 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, SCV003897982.2

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

Description

The c.386T>G (p.F129C) alteration is located in exon 4 (coding exon 4) of the CD40 gene. This alteration results from a T to G substitution at nucleotide position 386, causing the phenylalanine (F) at amino acid position 129 to be replaced by a cysteine (C). 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 1, 2024