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NM_000135.4(FANCA):c.4168G>A (p.Gly1390Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 13, 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:
RCV004383700.1

Allele description [Variation Report for NM_000135.4(FANCA):c.4168G>A (p.Gly1390Ser)]

NM_000135.4(FANCA):c.4168G>A (p.Gly1390Ser)

Genes:
FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_000135.4(FANCA):c.4168G>A (p.Gly1390Ser)
HGVS:
  • NC_000016.10:g.89738974C>T
  • NG_011706.1:g.82684G>A
  • NM_000135.4:c.4168G>AMANE SELECT
  • NM_001113525.2:c.*728C>TMANE SELECT
  • NM_001286167.3:c.4172G>A
  • NM_152287.4:c.*728C>T
  • NP_000126.2:p.Gly1390Ser
  • NP_000126.2:p.Gly1390Ser
  • NP_001273096.1:p.Gly1391Glu
  • LRG_495t1:c.4168G>A
  • LRG_495:g.82684G>A
  • LRG_495p1:p.Gly1390Ser
  • NC_000016.9:g.89805382C>T
  • NM_000135.2:c.4168G>A
  • NR_110122.2:n.2728C>T
  • NR_110126.2:n.2611C>T
  • NR_110128.2:n.2551C>T
  • NR_110129.2:n.2645C>T
Protein change:
G1390S
Molecular consequence:
  • NM_001113525.2:c.*728C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*728C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000135.4:c.4168G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.4172G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110122.2:n.2728C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.2611C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.2551C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.2645C>T - 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
SCV004869472Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 13, 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, SCV004869472.1

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

Description

The c.4168G>A (p.G1390S) alteration is located in exon 42 (coding exon 42) of the FANCA gene. This alteration results from a G to A substitution at nucleotide position 4168, causing the glycine (G) at amino acid position 1390 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: Sep 1, 2024