NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro) AND Cystic fibrosis

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 3, 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:: RCV001307789.7

Allele description [Variation Report for NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)]

NM_000492.4(CFTR):c.3691T>C (p.Ser1231Pro)

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.3691T>C (p.Ser1231Pro)

HGVS:

NC_000007.14:g.117627744T>C
NG_016465.4:g.166961T>C
NM_000492.4:c.3691T>CMANE SELECT
NP_000483.3:p.Ser1231Pro
LRG_663:g.166961T>C
NC_000007.13:g.117267798T>C

Protein change:

S1231P

Links:

dbSNP: rs1792676456

NCBI 1000 Genomes Browser:

rs1792676456

Molecular consequence:

NM_000492.4:c.3691T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cystic fibrosis (CF)
Synonyms:: Mucoviscidosis
Identifiers:: MONDO: MONDO:0009061; MedGen: C0010674; Orphanet: 586; OMIM: 219700

Recent activity

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PREDICTED: Homo sapiens tudor domain containing 5 (TDRD5), transcript variant X5...
PREDICTED: Homo sapiens tudor domain containing 5 (TDRD5), transcript variant X5, mRNA
gi|2217264518|ref|XM_047447753.1|

Nucleotide
bile acid-CoA:amino acid N-acyltransferase [Alligator sinensis]
bile acid-CoA:amino acid N-acyltransferase [Alligator sinensis]
gi|557259754|ref|XP_006015543.1|

Protein
MULTISPECIES: RluA family pseudouridine synthase [Streptococcus]
MULTISPECIES: RluA family pseudouridine synthase [Streptococcus]
gi|446328740|ref|WP_000406595.1|

Protein
SAMN02918336 (1)
SRA
Bubalus bubalis stearoyl-CoA desaturase (SCD) gene, partial sequence.
Bubalus bubalis stearoyl-CoA desaturase (SCD) gene, partial sequence.
PopSet: 2747362107

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001497214	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Oct 3, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001497214

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Oct 3, 2022)

germline

clinical testing

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
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001497214.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt CFTR protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 1010196). This variant has not been reported in the literature in individuals affected with CFTR-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1231 of the CFTR protein (p.Ser1231Pro).

#	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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