NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser) AND Fanconi anemia complementation group I

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Apr 20, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000763986.7

Allele description [Variation Report for NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)]

NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

Preferred name:

NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)

HGVS:

NC_000015.10:g.89273413C>T
NG_011736.1:g.34451C>T
NM_001113378.2:c.919C>TMANE SELECT
NM_001376910.1:c.640C>T
NM_001376911.1:c.919C>T
NM_018193.3:c.919C>T
NP_001106849.1:p.Pro307Ser
NP_001106849.1:p.Pro307Ser
NP_001363839.1:p.Pro214Ser
NP_001363840.1:p.Pro307Ser
NP_060663.2:p.Pro307Ser
LRG_500t1:c.919C>T
LRG_500:g.34451C>T
LRG_500p1:p.Pro307Ser
NC_000015.9:g.89816644C>T
NM_001113378.1:c.919C>T

Protein change:

P214S

Links:

dbSNP: rs769485443

NCBI 1000 Genomes Browser:

rs769485443

Molecular consequence:

NM_001113378.2:c.919C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376910.1:c.640C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001376911.1:c.919C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_018193.3:c.919C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000894937	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Apr 20, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001451641	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSLVariantClassificationCriteria RUGD 01 April 2020)	Uncertain significance (Feb 20, 2019)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000894937

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Apr 20, 2022)

unknown

clinical testing

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

SCV001451641

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSLVariantClassificationCriteria RUGD 01 April 2020)

Uncertain significance
(Feb 20, 2019)

unknown

clinical testing

Citation Link

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

PMC

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.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894937.2

#	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

From Illumina Laboratory Services, Illumina, SCV001451641.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The FANCI c.919C>T (p.Pro307Ser) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is found at a frequency of 0.000981 in the East Asian population of the Genome Aggregation Database. Based on the limited evidence, the p.Pro307Ser variant is classified as a variant of uncertain significance for Fanconi anemia.

#	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: Feb 28, 2024

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