NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) AND Hereditary pancreatitis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 30, 2021
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV002257391.2

Allele description [Variation Report for NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)]

NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)

Gene:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.92G>T (p.Arg31Leu)

HGVS:

NC_000007.14:g.117504291G>T
NG_016465.4:g.43508G>T
NM_000492.4:c.92G>TMANE SELECT
NP_000483.3:p.Arg31Leu
NP_000483.3:p.Arg31Leu
LRG_663t1:c.92G>T
LRG_663:g.43508G>T
LRG_663p1:p.Arg31Leu
NC_000007.13:g.117144345G>T
NM_000492.3:c.92G>T
P13569:p.Arg31Leu

Protein change:

R31L

Links:

UniProtKB: P13569#VAR_000103; dbSNP: rs149353983

NCBI 1000 Genomes Browser:

rs149353983

Molecular consequence:

NM_000492.4:c.92G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary pancreatitis (PCTT)
Synonyms:: Hereditary chronic pancreatitis
Identifiers:: MONDO: MONDO:0008185; MedGen: C0238339; Orphanet: 676; OMIM: 167800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002529742	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Apr 30, 2021)	germline	curation	PubMed (4) [See all records that cite these PMIDs] 29805046, 7537150, 28392015, 16339147 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002529742

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Apr 30, 2021)

germline

curation

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

Raraigh KS, Han ST, Davis E, Evans TA, Pellicore MJ, McCague AF, Joynt AT, Lu Z, Atalar M, Sharma N, Sheridan MB, Sosnay PR, Cutting GR.

Am J Hum Genet. 2018 Jun 7;102(6):1062-1077. doi: 10.1016/j.ajhg.2018.04.003. Epub 2018 May 24.

PubMed [citation]

PMID:: 29805046
PMCID:: PMC5992123

Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.

Zielenski J, Markiewicz D, Chen HS, Schappert K, Seller A, Durie P, Corey M, Tsui LC.

Hum Mutat. 1995;5(1):43-7.

PubMed [citation]

PMID:: 7537150

See all PubMed Citations (4)

Details of each submission

From Sema4, Sema4, SCV002529742.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (4)

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

Last Updated: Sep 29, 2024

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