NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Feb 15, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000726406.20

Allele description [Variation Report for NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)]

NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

Gene:

DYSF:dysferlin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p13.2

Genomic location:

Preferred name:

NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser)

HGVS:

NC_000002.12:g.71611511A>G
NG_008694.1:g.162889A>G
NM_001130455.2:c.4055A>G
NM_001130976.2:c.4010A>G
NM_001130977.2:c.4010A>G
NM_001130978.2:c.4052A>G
NM_001130979.2:c.4145A>G
NM_001130980.2:c.4103A>G
NM_001130981.2:c.4103A>G
NM_001130982.2:c.4148A>G
NM_001130983.2:c.4055A>G
NM_001130984.2:c.4013A>G
NM_001130985.2:c.4106A>G
NM_001130986.2:c.4013A>G
NM_001130987.2:c.4106A>GMANE SELECT
NM_003494.4:c.4052A>G
NP_001123927.1:p.Asn1352Ser
NP_001124448.1:p.Asn1337Ser
NP_001124449.1:p.Asn1337Ser
NP_001124450.1:p.Asn1351Ser
NP_001124451.1:p.Asn1382Ser
NP_001124452.1:p.Asn1368Ser
NP_001124453.1:p.Asn1368Ser
NP_001124454.1:p.Asn1383Ser
NP_001124455.1:p.Asn1352Ser
NP_001124456.1:p.Asn1338Ser
NP_001124457.1:p.Asn1369Ser
NP_001124458.1:p.Asn1338Ser
NP_001124459.1:p.Asn1369Ser
NP_003485.1:p.Asn1351Ser
LRG_845t1:c.4052A>G
LRG_845t2:c.4106A>G
LRG_845:g.162889A>G
LRG_845p1:p.Asn1351Ser
LRG_845p2:p.Asn1369Ser
NC_000002.11:g.71838641A>G
NM_003494.3:c.4052A>G

Protein change:

N1337S

Links:

dbSNP: rs139529811

NCBI 1000 Genomes Browser:

rs139529811

Molecular consequence:

NM_001130455.2:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130976.2:c.4010A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130977.2:c.4010A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130978.2:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130979.2:c.4145A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130980.2:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130981.2:c.4103A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130982.2:c.4148A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130983.2:c.4055A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130984.2:c.4013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130985.2:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130986.2:c.4013A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001130987.2:c.4106A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003494.4:c.4052A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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myb family transcription factor APL-like [Cucurbita maxima]
myb family transcription factor APL-like [Cucurbita maxima]
gi|1281003969|ref|XP_022985858.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000344432	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 1, 2016)	germline	clinical testing	Citation Link,
SCV000730591	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Nov 14, 2019)	germline	clinical testing	Citation Link,
SCV003829588	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Feb 15, 2023)	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

SCV000344432

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Aug 1, 2016)

germline

clinical testing

Citation Link,

SCV000730591

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Nov 14, 2019)

germline

clinical testing

Citation Link,

SCV003829588

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Feb 15, 2023)

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Eurofins Ntd Llc (ga), SCV000344432.4

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

From GeneDx, SCV000730591.1

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

Description

This variant is associated with the following publications: (PMID: 23519732, 16010686)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003829588.2

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

#	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 26, 2024

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