U.S. flag

An official website of the United States government

NM_002476.2(MYL4):c.487+1G>C AND Atrial fibrillation, familial, 18

Germline classification:
Likely pathogenic (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:
RCV000555962.5

Allele description [Variation Report for NM_002476.2(MYL4):c.487+1G>C]

NM_002476.2(MYL4):c.487+1G>C

Gene:
MYL4:myosin light chain 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.32
Genomic location:
Preferred name:
NM_002476.2(MYL4):c.487+1G>C
HGVS:
  • NC_000017.11:g.47221856G>C
  • NG_052847.1:g.17840G>C
  • NG_052847.2:g.37425G>C
  • NG_136823.1:g.568G>C
  • NM_001002841.2:c.487+1G>C
  • NM_002476.2:c.487+1G>CMANE SELECT
  • NC_000017.10:g.45299222G>C
  • NM_001002841.1:c.487+1G>C
Links:
dbSNP: rs769405762
NCBI 1000 Genomes Browser:
rs769405762
Molecular consequence:
  • NM_001002841.2:c.487+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_002476.2:c.487+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Atrial fibrillation, familial, 18 (ATFB18)
Identifiers:
MONDO: MONDO:0015001; MedGen: C4310636; OMIM: 617280

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000656678Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Oct 3, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Splicing in action: assessing disease causing sequence changes.

Baralle D, Baralle M.

J Med Genet. 2005 Oct;42(10):737-48. Review.

PubMed [citation]
PMID:
16199547
PMCID:
PMC1735933

Large-scale whole-genome sequencing of the Icelandic population.

Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A, Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Stacey SN, Frigge ML, Holm H, Saemundsdottir J, Helgadottir HT, Johannsdottir H, Sigfusson G, Thorgeirsson G, Sverrisson JT, Gretarsdottir S, Walters GB, et al.

Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25.

PubMed [citation]
PMID:
25807286
See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000656678.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

This variant has not been reported in the literature in individuals affected with MYL4-related conditions. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 476205). This variant is present in population databases (rs769405762, gnomAD 0.0009%). This sequence change affects a donor splice site in intron 5 of the MYL4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MYL4 are known to be pathogenic (PMID: 25807286, 27742809).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024