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NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) AND Fanconi anemia

Germline classification:
Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:
Jan 16, 2024
Review status:
criteria provided, conflicting classifications
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:
RCV000277965.16

Allele description [Variation Report for NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)]

NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)

Gene:
FANCI:FA complementation group I [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln)
HGVS:
  • NC_000015.10:g.89290247T>A
  • NG_011736.1:g.51285T>A
  • NM_001113378.2:c.1856T>AMANE SELECT
  • NM_001376910.1:c.1577T>A
  • NM_001376911.1:c.1856T>A
  • NM_018193.3:c.1856T>A
  • NP_001106849.1:p.Leu619Gln
  • NP_001106849.1:p.Leu619Gln
  • NP_001363839.1:p.Leu526Gln
  • NP_001363840.1:p.Leu619Gln
  • NP_060663.2:p.Leu619Gln
  • LRG_500t1:c.1856T>A
  • LRG_500:g.51285T>A
  • LRG_500p1:p.Leu619Gln
  • NC_000015.9:g.89833478T>A
  • NM_001113378.1:c.1856T>A
Protein change:
L526Q
Links:
dbSNP: rs151038616
NCBI 1000 Genomes Browser:
rs151038616
Molecular consequence:
  • NM_001113378.2:c.1856T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376910.1:c.1577T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001376911.1:c.1856T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_018193.3:c.1856T>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000547817Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Benign
(Jan 16, 2024)
germlineclinical testing

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

SCV002529812Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)
Uncertain significance
(Oct 19, 2021)
germlinecuration

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV000547817.10

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

From Sema4, Sema4, SCV002529812.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024