NM_001113378.2(FANCI):c.2578del (p.Ser860fs) AND Fanconi anemia complementation group I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 1, 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:: RCV003468181.1

Allele description [Variation Report for NM_001113378.2(FANCI):c.2578del (p.Ser860fs)]

NM_001113378.2(FANCI):c.2578del (p.Ser860fs)

Gene:

FANCI:FA complementation group I [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001113378.2(FANCI):c.2578del (p.Ser860fs)

HGVS:

NC_000015.10:g.89295036del
NG_011736.1:g.56074del
NM_001113378.2:c.2578delMANE SELECT
NM_001376910.1:c.2299del
NM_001376911.1:c.2578del
NM_018193.3:c.2456+1039del
NP_001106849.1:p.Ser860Valfs
NP_001106849.1:p.Ser860fs
NP_001363839.1:p.Ser767fs
NP_001363840.1:p.Ser860fs
LRG_500t1:c.2578del
LRG_500:g.56074del
LRG_500p1:p.Ser860Valfs
NC_000015.9:g.89838267del
NM_001113378.1:c.2578delA

Protein change:

S767fs

Molecular consequence:

NM_001113378.2:c.2578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376910.1:c.2299del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376911.1:c.2578del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018193.3:c.2456+1039del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:: Fanconi anemia complementation group I (FANCI)
Identifiers:: MONDO: MONDO:0012186; MedGen: C1836861; Orphanet: 84; OMIM: 609053

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004197248	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (May 1, 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

SCV004197248

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(May 1, 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, SCV004197248.1

#	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: Jan 13, 2025

ClinVar

Relating variation to medicine