NM_001159699.2(FHL1):c.380-2A>G AND Nonpapillary renal cell carcinoma

Germline classification:: None
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:: RCV005925563.1

Allele description [Variation Report for NM_001159699.2(FHL1):c.380-2A>G]

NM_001159699.2(FHL1):c.380-2A>G

Gene:

FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq26.3

Genomic location:

Preferred name:

NM_001159699.2(FHL1):c.380-2A>G

HGVS:

NC_000023.11:g.136207790A>G
NG_015895.1:g.65391A>G
NM_001159699.2:c.380-2A>GMANE SELECT
NM_001159700.2:c.332-2A>G
NM_001159701.2:c.419-2A>G
NM_001159702.3:c.332-2A>G
NM_001159703.2:c.332-2A>G
NM_001159704.1:c.332-2A>G
NM_001167819.1:c.332-2A>G
NM_001330659.2:c.380-2A>G
NM_001369326.1:c.332-2A>G
NM_001369327.2:c.332-2A>G
NM_001369328.1:c.332-2A>G
NM_001369329.1:c.332-2A>G
NM_001369330.1:c.332-2A>G
NM_001369331.1:c.332-2A>G
NM_001449.5:c.332-2A>G
LRG_739t1:c.380-2A>G
LRG_739t2:c.332-2A>G
LRG_739:g.65391A>G
NC_000023.10:g.135289949A>G

Links:

dbSNP: rs2148375467

Molecular consequence:

NM_001159699.2:c.380-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001159700.2:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001159701.2:c.419-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001159702.3:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001159703.2:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001159704.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001167819.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001330659.2:c.380-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369326.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369327.2:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369328.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369329.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369330.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001369331.1:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001449.5:c.332-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:: Nonpapillary renal cell carcinoma
Identifiers:: MONDO: MONDO:0007763; MedGen: CN074294; Orphanet: 422526; OMIM: 144700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV006988764	Dr. Peter K. Rogan Lab, Western University	no classification provided		not applicable	in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV006988764

Dr. Peter K. Rogan Lab, Western University

no classification provided

not applicable

in vitro

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

Citations

PubMed

Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.

Shirley BC, Mucaki EJ, Rogan PK.

Version 3. F1000Res. 2018 [revised 2019 Sep 6];7:1908. doi: 10.12688/f1000research.17204.3.

PubMed [citation]

PMID:: 31275557
PMCID:: PMC6544075

Details of each submission

From Dr. Peter K. Rogan Lab, Western University, SCV006988764.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	in vitro	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not applicable	not applicable	not provided	Kidney Chromophobe (KICH)	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 12, 2026

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