NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) AND Hereditary pancreatitis

Germline classification:: Benign (1 submission)
Last evaluated:: Jul 22, 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:: RCV002255311.1

Allele description [Variation Report for NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)]

NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)

Genes:

CFTR:CF transmembrane conductance regulator [Gene - OMIM - HGNC]
CFTR-AS1:CFTR antisense RNA 1 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q31.2

Genomic location:

Preferred name:

NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala)

HGVS:

NC_000007.14:g.117548743A>G
NG_016465.4:g.87960A>G
NM_000492.4:c.1312A>GMANE SELECT
NP_000483.3:p.Thr438Ala
NP_000483.3:p.Thr438Ala
LRG_663t1:c.1312A>G
LRG_663:g.87960A>G
LRG_663p1:p.Thr438Ala
NC_000007.13:g.117188797A>G
NM_000492.3:c.1312A>G

Protein change:

T438A

Links:

dbSNP: rs201434579

NCBI 1000 Genomes Browser:

rs201434579

Molecular consequence:

NM_000492.4:c.1312A>G - 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
SCV002529671	Sema4, Sema4	criteria provided, single submitter (Sema4 Curation Guidelines)	Benign (Jul 22, 2021)	germline	curation	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002529671

Sema4, Sema4

criteria provided, single submitter

(Sema4 Curation Guidelines)

Benign
(Jul 22, 2021)

germline

curation

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

Details of each submission

From Sema4, Sema4, SCV002529671.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not provided

#	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: Oct 8, 2024

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