NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro) AND Fanconi anemia complementation group A

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 28, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV001256420.1

Allele description [Variation Report for NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)]

NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)

Genes:

FANCA:FA complementation group A [Gene - OMIM - HGNC]
ZNF276:zinc finger protein 276 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)

HGVS:

NC_000016.10:g.89738947C>G
NG_011706.1:g.82711G>C
NM_000135.4:c.4195G>CMANE SELECT
NM_001113525.2:c.*701C>GMANE SELECT
NM_001286167.3:c.4199G>C
NM_152287.4:c.*701C>G
NP_000126.2:p.Ala1399Pro
NP_000126.2:p.Ala1399Pro
NP_001273096.1:p.Ser1400Thr
LRG_495t1:c.4195G>C
LRG_495:g.82711G>C
LRG_495p1:p.Ala1399Pro
NC_000016.9:g.89805355C>G
NM_000135.2:c.4195G>C
NR_110122.2:n.2701C>G
NR_110126.2:n.2584C>G
NR_110128.2:n.2524C>G
NR_110129.2:n.2618C>G

Protein change:

A1399P

Links:

dbSNP: rs749574677

NCBI 1000 Genomes Browser:

rs749574677

Molecular consequence:

NM_001113525.2:c.*701C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152287.4:c.*701C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000135.4:c.4195G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001286167.3:c.4199G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_110122.2:n.2701C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110126.2:n.2584C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110128.2:n.2524C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110129.2:n.2618C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Fanconi anemia complementation group A
Synonyms:: Fanconi anemia, group A
Identifiers:: MONDO: MONDO:0009215; MedGen: C3469521; Orphanet: 84; OMIM: 227650

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001425869	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Feb 28, 2020)	germline	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001425869

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Feb 28, 2020)

germline

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	curation

Details of each submission

From Leiden Open Variation Database, SCV001425869.1

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

Description

Curator: Arleen D. Auerbach. Submitter to LOVD: Arleen D. Auerbach.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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