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NM_000492.4(CFTR):c.1050C>G (p.Val350=) AND Hereditary pancreatitis

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 1, 2020
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:
RCV002258285.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1050C>G (p.Val350=)]

NM_000492.4(CFTR):c.1050C>G (p.Val350=)

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.1050C>G (p.Val350=)
HGVS:
  • NC_000007.14:g.117540280C>G
  • NG_016465.4:g.79497C>G
  • NM_000492.4:c.1050C>GMANE SELECT
  • NP_000483.3:p.Val350=
  • LRG_663t1:c.1050C>G
  • LRG_663:g.79497C>G
  • NC_000007.13:g.117180334C>G
  • NM_000492.3:c.1050C>G
Links:
dbSNP: rs1038437842
NCBI 1000 Genomes Browser:
rs1038437842
Molecular consequence:
  • NM_000492.4:c.1050C>G - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002529668Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Likely benign
(Dec 1, 2020) 		germlinecuration

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Details of each submission

From Sema4, Sema4, SCV002529668.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024