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NM_000135.4(FANCA):c.4168-6C>G AND Fanconi anemia

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jan 25, 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:
RCV003637179.2

Allele description [Variation Report for NM_000135.4(FANCA):c.4168-6C>G]

NM_000135.4(FANCA):c.4168-6C>G

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.4168-6C>G
HGVS:
  • NC_000016.10:g.89738980G>C
  • NG_011706.1:g.82678C>G
  • NM_000135.4:c.4168-6C>GMANE SELECT
  • NM_001113525.2:c.*734G>CMANE SELECT
  • NM_001286167.3:c.4172-6C>G
  • NM_152287.4:c.*734G>C
  • LRG_495:g.82678C>G
  • NC_000016.9:g.89805388G>C
  • NR_110122.2:n.2734G>C
  • NR_110126.2:n.2617G>C
  • NR_110128.2:n.2557G>C
  • NR_110129.2:n.2651G>C
Molecular consequence:
  • NM_001113525.2:c.*734G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_152287.4:c.*734G>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000135.4:c.4168-6C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286167.3:c.4172-6C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_110122.2:n.2734G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110126.2:n.2617G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110128.2:n.2557G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_110129.2:n.2651G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

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  • Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), transcript variant...
    Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), transcript variant 3, mRNA
    gi|1674986003|ref|NM_001284424.2|
    Nucleotide
  • barrier-to-autointegration factor-like protein isoform 2 [Homo sapiens]
    barrier-to-autointegration factor-like protein isoform 2 [Homo sapiens]
    gi|227452411|ref|NP_001152967.1|
    Protein
  • Mastadenovirus E1A 29.1 kDa protein (E1A), E1A 25 kDa protein (E1A), E1A 6 kDa p...
    Mastadenovirus E1A 29.1 kDa protein (E1A), E1A 25 kDa protein (E1A), E1A 6 kDa protein (E1A), E1B small T antigen (E1B), E1B large T antigen (E1B), hexon associated protein (IX), maturation protein (IVa2), DNA polymerase (E2B), L1 13.6 kDa protein (L1), DNA terminal protein (pTP), and hypothetical protein (L1) genes, complete cds; virus-associated RNA I (VAI) and virus-associated RNA II (VAII) genes, complete sequence; L1 52 kDa protein (L1), IIIa capsid protein (L1), penton base (L2), VII core protein (L2), V core protein (L2), X core protein (L2), VI capsid protein (L3), hexon (L3), protease (L3), ssDNA-binding protein (E2A), hexon-assembly protein (L4), splicing factor (L4), L4 encapsidation protein (L4), VIII capsid protein (L4), E3 12.5 kDa immune modulating protein (E3), E3 CR1-alpha (E3), E3 immune modulating protein (E3), E3 CR1-beta (E3), E3 CR1-gamma (E3), E3 CR1-delta (E3), E3 RID-alpha (E3), E3 RID-beta (E3), and E3 control protein 14.7 kDa (E3) genes, complete cds; putative protein U (U) gene, partial cds; and fiber (L5), E4 control protein orf6/7 (E4), E4 control protein 34 kDa (E4), E4 control protein orf4 (E4), agnoprotein (L5), E4 control protein orf3 (E4), E4 control protein orf2 (E4), and E4 control protein orf1 (E4) genes, complete cds.
    PopSet: 2221767368
    PopSet
  • Furnariidae beta-fibrinogen gene, intron 7.
    Furnariidae beta-fibrinogen gene, intron 7.
    PopSet: 156186518
    PopSet
  • Chain V, NUCLEAR PORE COMPLEX PROTEIN NUP107
    Chain V, NUCLEAR PORE COMPLEX PROTEIN NUP107
    gi|931139970|pdb|5A9Q|V
    Protein

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004485820Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely benign
(Jan 25, 2024) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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, SCV004485820.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2024