NM_018062.4(FANCL):c.761_771del (p.Leu254fs) AND Fanconi anemia complementation group A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 9, 2022
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:: RCV002227888.2

Allele description [Variation Report for NM_018062.4(FANCL):c.761_771del (p.Leu254fs)]

NM_018062.4(FANCL):c.761_771del (p.Leu254fs)

Gene:

FANCL:FA complementation group L [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p16.1

Genomic location:

Preferred name:

NM_018062.4(FANCL):c.761_771del (p.Leu254fs)

HGVS:

NC_000002.12:g.58163439_58163449del
NG_007418.1:g.82932_82942del
NM_001114636.2:c.775_785delCTTGGAGCTGA
NM_001374615.1:c.806_816del
NM_001410792.1:c.821_831del
NM_018062.4:c.761_771delMANE SELECT
NP_001108108.1:p.Leu259Profs
NP_001108108.1:p.Leu259fs
NP_001361544.1:p.Leu269fs
NP_001397721.1:p.Leu274fs
NP_060532.2:p.Leu254Profs
NP_060532.2:p.Leu254fs
LRG_501t1:c.776_786del
LRG_501t2:c.760_770del
LRG_501:g.82932_82942del
LRG_501p1:p.Leu259fs
LRG_501p2:p.Leu254Profs
NC_000002.11:g.58390574_58390584del
NM_001114636.1:c.776_786del
NM_018062.3:c.760_770delCTTGGAGCTGA
NR_156742.1:n.550_560del
NR_156742.2:n.494_504delCTTGGAGCTGA
NR_164659.1:n.770_780del
NR_164659.2:n.787_797delCTTGGAGCTGA

Protein change:

L254fs

Links:

dbSNP: rs2104799592

NCBI 1000 Genomes Browser:

rs2104799592

Molecular consequence:

NM_001114636.2:c.775_785delCTTGGAGCTGA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374615.1:c.806_816del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001410792.1:c.821_831del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018062.4:c.761_771del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002507150	Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (May 9, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002507150

Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(May 9, 2022)

germline

clinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India, SCV002507150.1

#	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	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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