U.S. flag

An official website of the United States government

NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met) AND Fanconi anemia complementation group A

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 16, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003382501.2

Allele description [Variation Report for NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)]

NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)

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.4188A>G (p.Ile1396Met)
Other names:
p.Ile1396Met
HGVS:
  • NC_000016.10:g.89738954T>C
  • NG_011706.1:g.82704A>G
  • NM_000135.4:c.4188A>GMANE SELECT
  • NM_001113525.2:c.*708T>CMANE SELECT
  • NM_001286167.3:c.4192A>G
  • NM_152287.4:c.*708T>C
  • NP_000126.2:p.Ile1396Met
  • NP_000126.2:p.Ile1396Met
  • NP_001273096.1:p.Asn1398Asp
  • LRG_495t1:c.4188A>G
  • LRG_495:g.82704A>G
  • LRG_495p1:p.Ile1396Met
  • NC_000016.9:g.89805362T>C
  • NM_000135.2:c.4188A>G
  • NM_000135.2:c.4188A>G
  • NR_110122.2:n.2708T>C
  • NR_110126.2:n.2591T>C
  • NR_110128.2:n.2531T>C
  • NR_110129.2:n.2625T>C
Protein change:
I1396M
Links:
dbSNP: rs1441175300
NCBI 1000 Genomes Browser:
rs1441175300
Molecular consequence:
  • NM_001113525.2:c.*708T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*708T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000135.4:c.4188A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286167.3:c.4192A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_110122.2:n.2708T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.2591T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.2531T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.2625T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
Observations:
1

Condition(s)

Name:
Fanconi anemia complementation group A
Synonyms:
Fanconi anemia, group A
Identifiers:
MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004098869Clinical Genomics Laboratory, Stanford Medicine
no assertion criteria provided
Uncertain significance
(Oct 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Genomics Laboratory, Stanford Medicine, SCV004098869.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testingnot provided

Description

The p.Ile1396Met variant in the FANCA gene has not been previously reported in association with disease. This variant has been identified in 3/18,394 East Asian chromosomes by the Genome Aggregation Database (http://gnomad.broadinstitute.org/). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. Computational tools predict that the p.Ile1396Met variant is deleterious; however, the accuracy of in silico algorithms is limited. The isoleucine at position 1396 is poorly evolutionarily conserved and 1 species (hedgehog)/100 vertebrate species has a methionine at this position. These data were assessed using the ACMG/AMP variant interpretation guidelines. In summary, the significance of the p.Ile1396Met variant is uncertain. Additional information is needed to resolve the significance of this variant. [ACMG evidence codes used: PM2; PP3]

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 1, 2024