NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) AND Fanconi anemia complementation group A

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Aug 26, 2023
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:: RCV000667783.3

Allele description [Variation Report for NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)]

NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)

Genes:

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

Variant type:

Microsatellite

Cytogenetic location:

16q24.3

Genomic location:

Preferred name:

NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)

HGVS:

NC_000016.10:g.89739175TG[1]
NG_011706.1:g.82480CA[1]
NM_000135.4:c.4124_4125delMANE SELECT
NM_001113525.2:c.*929TG[1]MANE SELECT
NM_001286167.3:c.4124_4125del
NM_152287.4:c.*929TG[1]
NP_000126.2:p.Thr1375Serfs
NP_000126.2:p.Thr1375fs
NP_001273096.1:p.Thr1375fs
LRG_495t1:c.4122_4123CA[1]
LRG_495:g.82480CA[1]
LRG_495p1:p.Thr1375Serfs
NC_000016.9:g.89805583TG[1]
NC_000016.9:g.89805583_89805584del
NM_000135.2:c.4122_4123CA[1]
NM_000135.2:c.4124_4125del
NM_000135.2:c.4124_4125delCA
NM_000135.2:c.4124_4125delCA
NR_110122.2:n.2929TG[1]
NR_110126.2:n.2812TG[1]
NR_110128.2:n.2752TG[1]
NR_110129.2:n.2846TG[1]

Protein change:

T1375fs

Links:

dbSNP: rs776969626

NCBI 1000 Genomes Browser:

rs776969626

Molecular consequence:

NM_001113525.2:c.*929TG[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_152287.4:c.*929TG[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000135.4:c.4124_4125del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001286167.3:c.4124_4125del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110122.2:n.2929TG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110126.2:n.2812TG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110128.2:n.2752TG[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_110129.2:n.2846TG[1] - 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

Recent activity

Clear Turn Off Turn On

CBSU2469.rev NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8864947 3'...
CBSU2469.rev NICHD_XGC_tropLimb_m Xenopus tropicalis cDNA clone IMAGE:8864947 3', mRNA sequence
gi|126581774|gnl|dbEST|45096269|gb| 910.1|

Nucleotide

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
SCV000792287	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Pathogenic (Jun 14, 2017)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 21273304, 26366677, 24037726, 27041517, 23934222 Citation Link,
SCV001425864	Leiden Open Variation Database	no assertion criteria provided	Pathogenic (Feb 28, 2020)	germline	curation
SCV004196048	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Aug 26, 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

SCV000792287

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Pathogenic
(Jun 14, 2017)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV001425864

Leiden Open Variation Database

no assertion criteria provided

Pathogenic
(Feb 28, 2020)

germline

curation

SCV004196048

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Aug 26, 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	germline	yes	not provided	not provided	not provided	not provided	not provided	curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

Castella M, Pujol R, Callén E, Trujillo JP, Casado JA, Gille H, Lach FP, Auerbach AD, Schindler D, Benítez J, Porto B, Ferro T, Muñoz A, Sevilla J, Madero L, Cela E, Beléndez C, de Heredia CD, Olivé T, de Toledo JS, Badell I, Torrent M, et al.

Blood. 2011 Apr 7;117(14):3759-69. doi: 10.1182/blood-2010-08-299917. Epub 2011 Jan 27.

PubMed [citation]

PMID:: 21273304
PMCID:: PMC3083295

FANCA safeguards interphase and mitosis during hematopoiesis in vivo.

Abdul-Sater Z, Cerabona D, Potchanant ES, Sun Z, Enzor R, He Y, Robertson K, Goebel WS, Nalepa G.

Exp Hematol. 2015 Dec;43(12):1031-1046.e12. doi: 10.1016/j.exphem.2015.08.013. Epub 2015 Sep 11.

PubMed [citation]

PMID:: 26366677
PMCID:: PMC4666759

See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000792287.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	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 Leiden Open Variation Database, SCV001425864.1

#	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. Submitters to LOVD: Arleen D. Auerbach, Daniela Pilonetto.

#	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

From Baylor Genetics, SCV004196048.1

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine