NM_001113378.2(FANCI):c.996_997del (p.Ser333fs) AND Fanconi anemia complementation group I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 4, 2023
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:: RCV003461518.1

Allele description [Variation Report for NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)]

NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)

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.996_997del (p.Ser333fs)

HGVS:

NC_000015.10:g.89274188_89274189del
NG_011736.1:g.35226_35227del
NM_001113378.2:c.996_997delMANE SELECT
NM_001376910.1:c.717_718del
NM_001376911.1:c.996_997del
NM_018193.3:c.996_997del
NP_001106849.1:p.Ser333Glyfs
NP_001106849.1:p.Ser333fs
NP_001363839.1:p.Ser240fs
NP_001363840.1:p.Ser333fs
NP_060663.2:p.Ser333fs
LRG_500t1:c.996_997del
LRG_500:g.35226_35227del
LRG_500p1:p.Ser333Glyfs
NC_000015.9:g.89817419_89817420del
NM_001113378.1:c.996_997delTT

Protein change:

S240fs

Molecular consequence:

NM_001113378.2:c.996_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376910.1:c.717_718del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001376911.1:c.996_997del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_018193.3:c.996_997del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

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

Recent activity

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GNAT family N-acetyltransferase [Sulfurisphaera ohwakuensis]
GNAT family N-acetyltransferase [Sulfurisphaera ohwakuensis]
gi|2810124065|ref|WP_375781473.1|

Protein
hypothetical protein [Pyrobaculum sp.]
hypothetical protein [Pyrobaculum sp.]
gi|2726594253|ref|WP_342838840.1|

Protein
MULTISPECIES: flagellar basal body rod modification protein [Campylobacter]
MULTISPECIES: flagellar basal body rod modification protein [Campylobacter]
gi|740667248|ref|WP_038452538.1|

Protein
Scandinavian and Nordic Countries
Scandinavian and Nordic Countries
NORWAY; SWEDEN; DENMARK; ICELAND; and FINLAND.<br/>Year introduced: use SCANDINAVIA 1983-2014

MeSH
District of Columbia
District of Columbia
A federal area located between Maryland and Virginia on the Potomac river; it is coextensive with Washington, D.C., which is the capital of the United States....<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004197183	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jul 4, 2023)	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

SCV004197183

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jul 4, 2023)

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, SCV004197183.1

#	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: Dec 30, 2023

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