NM_003283.6(TNNT1):c.294C>T (p.Ala98=) AND Nemaline myopathy 5

Clinical significance:Likely benign (Last evaluated: Mar 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000528356.1

Allele description [Variation Report for NM_003283.6(TNNT1):c.294C>T (p.Ala98=)]

NM_003283.6(TNNT1):c.294C>T (p.Ala98=)

Gene:
TNNT1:troponin T1, slow skeletal type [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.42
Genomic location:
Preferred name:
NM_003283.6(TNNT1):c.294C>T (p.Ala98=)
HGVS:
  • NC_000019.10:g.55141201G>A
  • NG_011829.2:g.13038C>T
  • NM_001126132.3:c.294C>T
  • NM_001126133.3:c.261C>T
  • NM_001291774.2:c.261C>T
  • NM_003283.6:c.294C>TMANE SELECT
  • NP_001119604.1:p.Ala98=
  • NP_001119605.1:p.Ala87=
  • NP_001278703.1:p.Ala87=
  • NP_003274.3:p.Ala98=
  • LRG_679t1:c.294C>T
  • LRG_679:g.13038C>T
  • LRG_679p1:p.Ala98=
  • NC_000019.9:g.55652569G>A
  • NM_003283.4:c.294C>T
  • NM_003283.5:c.294C>T
Links:
dbSNP: rs373544170
NCBI 1000 Genomes Browser:
rs373544170
Molecular consequence:
  • NM_001126132.3:c.294C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001126133.3:c.261C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001291774.2:c.261C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_003283.6:c.294C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Nemaline myopathy 5 (NEM5)
Synonyms:
Nemaline Myopathy, Amish Type; Nemaline myopathy, caused by mutation in the troponin t1 gene
Identifiers:
MONDO: MONDO:0011539; MedGen: C1854380; Orphanet: 98902; OMIM: 605355

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000641468Invitaecriteria provided, single submitter
Likely benign
(Mar 24, 2017)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000641468.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

Support Center