NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) AND Hereditary pancreatitis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 9, 2022
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:: RCV001762431.10

Allele description [Variation Report for NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)]

NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)

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.2900T>C (p.Leu967Ser)

HGVS:

NC_000007.14:g.117603774T>C
NG_016465.4:g.142991T>C
NM_000492.4:c.2900T>CMANE SELECT
NP_000483.3:p.Leu967Ser
NP_000483.3:p.Leu967Ser
LRG_663t1:c.2900T>C
LRG_663:g.142991T>C
LRG_663p1:p.Leu967Ser
NC_000007.13:g.117243828T>C
NM_000492.3:c.2900T>C
P13569:p.Leu967Ser

Protein change:

L967S

Links:

UniProtKB: P13569#VAR_009905; dbSNP: rs1800110

NCBI 1000 Genomes Browser:

rs1800110

Molecular consequence:

NM_000492.4:c.2900T>C - 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
SCV002529708	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Uncertain significance (Feb 9, 2022)	germline	curation	PubMed (10) [See all records that cite these PMIDs] 10970190, 23951356, 21520337, 31088717, 29805046, 28603918, 28544683, 29589582, 25033378, 24586523 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002529708

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Uncertain significance
(Feb 9, 2022)

germline

curation

PubMed (10)
[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

Many deltaF508 heterozygote neonates with transient hypertrypsinaemia have a second, mild CFTR mutation.

Boyne J, Evans S, Pollitt RJ, Taylor CJ, Dalton A.

J Med Genet. 2000 Jul;37(7):543-7. No abstract available.

PubMed [citation]

PMID:: 10970190
PMCID:: PMC1734626

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients.

Masson E, Chen JM, Audrézet MP, Cooper DN, Férec C.

PLoS One. 2013;8(8):e73522. doi: 10.1371/journal.pone.0073522.

PubMed [citation]

PMID:: 23951356
PMCID:: PMC3738529

See all PubMed Citations (10)

Details of each submission

From Sema4, Sema4, SCV002529708.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (10)

#	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: Nov 3, 2024

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