NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro) AND Qualitative or quantitative defects of dysferlin

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 11, 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:: RCV001227601.6

Allele description [Variation Report for NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro)]

NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.3131A>C (p.His1044Pro)

HGVS:

NC_000002.12:g.71570644A>C
NG_008694.1:g.122022A>C
NM_001130455.2:c.3080A>C
NM_001130976.2:c.3035A>C
NM_001130977.2:c.3035A>C
NM_001130978.2:c.3077A>C
NM_001130979.2:c.3170A>C
NM_001130980.2:c.3128A>C
NM_001130981.2:c.3128A>C
NM_001130982.2:c.3173A>C
NM_001130983.2:c.3080A>C
NM_001130984.2:c.3038A>C
NM_001130985.2:c.3131A>C
NM_001130986.2:c.3038A>C
NM_001130987.2:c.3131A>CMANE SELECT
NM_003494.4:c.3077A>C
NP_001123927.1:p.His1027Pro
NP_001124448.1:p.His1012Pro
NP_001124449.1:p.His1012Pro
NP_001124450.1:p.His1026Pro
NP_001124451.1:p.His1057Pro
NP_001124452.1:p.His1043Pro
NP_001124453.1:p.His1043Pro
NP_001124454.1:p.His1058Pro
NP_001124455.1:p.His1027Pro
NP_001124456.1:p.His1013Pro
NP_001124457.1:p.His1044Pro
NP_001124458.1:p.His1013Pro
NP_001124459.1:p.His1044Pro
NP_003485.1:p.His1026Pro
LRG_845t1:c.3077A>C
LRG_845t2:c.3131A>C
LRG_845:g.122022A>C
LRG_845p1:p.His1026Pro
LRG_845p2:p.His1044Pro
NC_000002.11:g.71797774A>C
NC_000002.11:g.71797774A>C
NM_003494.3:c.3077A>C

Protein change:

H1012P

Links:

dbSNP: rs2092365476

NCBI 1000 Genomes Browser:

rs2092365476

Molecular consequence:

NM_001130455.2:c.3080A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.3035A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.3077A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.3170A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.3128A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.3128A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.3173A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.3080A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.3038A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.3131A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.3038A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.3131A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.3077A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Qualitative or quantitative defects of dysferlin
Synonyms:: Dysferlinopathy
Identifiers:: MONDO: MONDO:0016145; MedGen: C2931687

Recent activity

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protein transport Sec1a-like isoform X2 [Cucumis melo]
protein transport Sec1a-like isoform X2 [Cucumis melo]
gi|659120309|ref|XP_008460125.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001399963	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 11, 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

SCV001399963

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 11, 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, SCV001399963.3

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

Description

This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 1026 of the DYSF protein (p.His1026Pro). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 955036). 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 not expected to disrupt DYSF 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.

#	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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