NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg) AND Karyomegalic interstitial nephritis

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 8, 2012
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:: RCV000030748.6

Allele description [Variation Report for NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg)]

NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg)

Genes:

FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
MTMR10:myotubularin related protein 10 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.3

Genomic location:

Preferred name:

NM_014967.5(FAN1):c.2809G>C (p.Gly937Arg)

Other names:

G937D

HGVS:

NC_000015.10:g.30930564G>C
NG_032946.2:g.31713G>C
NM_014967.5:c.2809G>CMANE SELECT
NP_055782.3:p.Gly937Arg
NC_000015.9:g.31222767G>C
NG_032946.1:g.31713G>C

Protein change:

GLY937ASP

Links:

OMIM: 613534.0008; dbSNP: rs387907280

NCBI 1000 Genomes Browser:

rs387907280

Molecular consequence:

NM_014967.5:c.2809G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Karyomegalic interstitial nephritis
Identifiers:: MONDO: MONDO:0013898; MedGen: C3553774; Orphanet: 401996; OMIM: 614817

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000053409	OMIM	no assertion criteria provided	Pathogenic (Jul 8, 2012)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000053409

OMIM

no assertion criteria provided

Pathogenic
(Jul 8, 2012)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.

Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, et al.

Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347.

PubMed [citation]

PMID:: 22772369
PMCID:: PMC3412140

Details of each submission

From OMIM, SCV000053409.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the gly937-to-asp (G937D) mutation in the FAN1 gene that was found in compound heterozygous state in a patient with karyomegalic interstitial nephritis (KMIN; 613534.0007) by Zhou et al. (2012), see 613534.0007.

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

Last Updated: Mar 26, 2023

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