NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) AND Fanconi anemia

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Jan 29, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000342460.13

Allele description [Variation Report for NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)]

NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)

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.4302C>T (p.Ala1434=)

HGVS:

NC_000016.10:g.89738667G>A
NG_011706.1:g.82991C>T
NM_000135.4:c.4302C>TMANE SELECT
NM_001113525.2:c.*421G>AMANE SELECT
NM_001286167.3:c.*31C>T
NM_152287.4:c.*421G>A
NP_000126.2:p.Ala1434=
NP_000126.2:p.Ala1434=
LRG_495t1:c.4302C>T
LRG_495:g.82991C>T
LRG_495p1:p.Ala1434=
NC_000016.9:g.89805075G>A
NM_000135.2:c.4302C>T
NM_000135.3:c.4302C>T
NR_110122.2:n.2421G>A
NR_110126.2:n.2304G>A
NR_110128.2:n.2244G>A
NR_110129.2:n.2338G>A

Links:

dbSNP: rs142784426

NCBI 1000 Genomes Browser:

rs142784426

Molecular consequence:

NM_001113525.2:c.*421G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001286167.3:c.*31C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152287.4:c.*421G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NR_110122.2:n.2421G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110126.2:n.2304G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110128.2:n.2244G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110129.2:n.2338G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000135.4:c.4302C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:: Fanconi anemia (FA)
Synonyms:: Fanconi pancytopenia; Fanconi's anemia
Identifiers:: MONDO: MONDO:0019391; MeSH: D005199; MedGen: C0015625; Orphanet: 84; OMIM: PS227650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000626207	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 29, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002535055	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Likely benign (Jul 13, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000626207

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 29, 2024)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002535055

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Likely benign
(Jul 13, 2021)

germline

curation

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing, curation

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000626207.7

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Sema4, Sema4, SCV002535055.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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