NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs) AND Fanconi anemia complementation group D2

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 26, 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:: RCV003460214.1

Allele description [Variation Report for NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)]

NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)

Genes:

FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
FANCD2OS:FANCD2 opposite strand [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)

HGVS:

NC_000003.12:g.10085839_10085840del
NG_007311.1:g.64411_64412del
NG_042053.1:g.27393_27394del
NM_001018115.3:c.3252_3253delMANE SELECT
NM_001319984.2:c.3252_3253del
NM_001374253.1:c.3141_3142del
NM_001374254.1:c.3252_3253del
NM_033084.6:c.3252_3253del
NM_173472.2:c.*44-4308_*44-4307del
NP_001018125.1:p.Asn1085Phefs
NP_001018125.1:p.Asn1085fs
NP_001306913.1:p.Asn1085fs
NP_001361182.1:p.Asn1048fs
NP_001361183.1:p.Asn1085fs
NP_149075.2:p.Asn1085Phefs
NP_149075.2:p.Asn1085fs
LRG_306t1:c.3252_3253del
LRG_306t2:c.3252_3253del
LRG_306:g.64411_64412del
LRG_306p1:p.Asn1085Phefs
LRG_306p2:p.Asn1085Phefs
NC_000003.11:g.10127523_10127524del
NM_001018115.1:c.3252_3253delGA
NM_033084.3:c.3252_3253delGA

Protein change:

N1048fs

Molecular consequence:

NM_001018115.3:c.3252_3253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001319984.2:c.3252_3253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374253.1:c.3141_3142del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001374254.1:c.3252_3253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033084.6:c.3252_3253del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_173472.2:c.*44-4308_*44-4307del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004196776	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 26, 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

SCV004196776

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 26, 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 Baylor Genetics, SCV004196776.1

#	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: Nov 30, 2024

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