NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) AND not specified

Germline classification:: Benign/Likely benign (3 submissions)
Last evaluated:: Aug 19, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000040786.15

Allele description [Variation Report for NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)]

NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)

Genes:

TTN-AS1:TTN antisense RNA 1 [Gene - HGNC]
TTN:titin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser)

Other names:

p.N29005S:AAT>AGT

HGVS:

NC_000002.12:g.178549785T>C
NG_011618.3:g.286018A>G
NG_051363.1:g.31959T>C
NM_001256850.1:c.87014A>G
NM_001267550.2:c.91937A>GMANE SELECT
NM_003319.4:c.64742A>G
NM_133378.4:c.84233A>G
NM_133432.3:c.65117A>G
NM_133437.4:c.65318A>G
NP_001243779.1:p.Asn29005Ser
NP_001254479.2:p.Asn30646Ser
NP_003310.4:p.Asn21581Ser
NP_596869.4:p.Asn28078Ser
NP_597676.3:p.Asn21706Ser
NP_597681.4:p.Asn21773Ser
LRG_391t1:c.91937A>G
LRG_391:g.286018A>G
NC_000002.11:g.179414512T>C
NM_001267550.1:c.91937A>G
c.84233A>G

Protein change:

N21581S

Links:

dbSNP: rs72648245

NCBI 1000 Genomes Browser:

rs72648245

Molecular consequence:

NM_001256850.1:c.87014A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001267550.2:c.91937A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003319.4:c.64742A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133378.4:c.84233A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133432.3:c.65117A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_133437.4:c.65318A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000064477	Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	criteria provided, single submitter (LMM Criteria)	Benign (Nov 22, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000228678	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Likely benign (Sep 3, 2014)	germline	clinical testing	Citation Link,
SCV004038620	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Likely benign (Aug 19, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000064477

Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

criteria provided, single submitter

(LMM Criteria)

Benign
(Nov 22, 2017)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV000228678

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Likely benign
(Sep 3, 2014)

germline

clinical testing

Citation Link,

SCV004038620

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Likely benign
(Aug 19, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	4	4	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

A systematic approach to assessing the clinical significance of genetic variants.

Duzkale H, Shen J, McLaughlin H, Alfares A, Kelly MA, Pugh TJ, Funke BH, Rehm HL, Lebo MS.

Clin Genet. 2013 Nov;84(5):453-63. doi: 10.1111/cge.12257.

PubMed [citation]

PMID:: 24033266
PMCID:: PMC3995020

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000064477.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

Description

p.Asn28078Ser in exon 287 of TTN: This variant is not expected to have clinical significance because it has been identified in 0.6% (153/24006) of African chrom osomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute. org; dbSNP rs72648245). BA1

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		4	not provided	4	not provided

From Eurofins Ntd Llc (ga), SCV000228678.5

#	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 Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV004038620.1

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

Last Updated: Oct 13, 2024

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