NM_001018115.3(FANCD2):c.230del (p.Lys77fs) AND Fanconi anemia complementation group D2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 11, 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:: RCV001783252.3

Allele description [Variation Report for NM_001018115.3(FANCD2):c.230del (p.Lys77fs)]

NM_001018115.3(FANCD2):c.230del (p.Lys77fs)

Genes:

LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001018115.3(FANCD2):c.230del (p.Lys77fs)

HGVS:

NC_000003.12:g.10034493del
NG_007311.1:g.13065del
NG_046754.1:g.3647del
NM_001018115.3:c.230delMANE SELECT
NM_001319984.2:c.230del
NM_001374253.1:c.230del
NM_001374254.1:c.230del
NM_001374255.1:c.230del
NM_033084.6:c.230del
NP_001018125.1:p.Lys77fs
NP_001306913.1:p.Lys77fs
NP_001361182.1:p.Lys77fs
NP_001361183.1:p.Lys77fs
NP_001361184.1:p.Lys77fs
NP_149075.2:p.Lys77fs
LRG_306t2:c.230del
LRG_306:g.13065del
NC_000003.11:g.10076174del
NC_000003.11:g.10076177del
NM_033084.4:c.230del

Protein change:

K77fs

Links:

dbSNP: rs770835633

NCBI 1000 Genomes Browser:

rs770835633

Molecular consequence:

NM_001018115.3:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319984.2:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374253.1:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374254.1:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374255.1:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033084.6:c.230del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Fanconi anemia complementation group D2
Synonyms:: FANCONI PANCYTOPENIA, TYPE 4; FANCONI ANEMIA, COMPLEMENTATION GROUP D
Identifiers:: MONDO: MONDO:0009214; MedGen: C3160738; Orphanet: 84; OMIM: 227646

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002801919	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 11, 2022)	unknown	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

SCV002801919

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 11, 2022)

unknown

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	unknown	unknown	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 Fulgent Genetics, Fulgent Genetics, SCV002801919.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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