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NM_022773.4(LMF1):c.1092G>A (p.Arg364=) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Feb 17, 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:
RCV002449392.2

Allele description [Variation Report for NM_022773.4(LMF1):c.1092G>A (p.Arg364=)]

NM_022773.4(LMF1):c.1092G>A (p.Arg364=)

Gene:
LMF1:lipase maturation factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_022773.4(LMF1):c.1092G>A (p.Arg364=)
HGVS:
  • NC_000016.10:g.870869C>T
  • NG_021286.2:g.115747G>A
  • NM_001352017.2:c.441G>A
  • NM_001352018.2:c.693G>A
  • NM_001352019.2:c.765G>A
  • NM_001352020.1:c.1092G>A
  • NM_001352021.2:c.441G>A
  • NM_022773.4:c.1092G>AMANE SELECT
  • NP_001338946.1:p.Arg147=
  • NP_001338947.1:p.Arg231=
  • NP_001338948.1:p.Arg255=
  • NP_001338949.1:p.Arg364=
  • NP_001338950.1:p.Arg147=
  • NP_073610.2:p.Arg364=
  • NC_000016.9:g.920869C>T
  • NM_022773.2:c.1092G>A
  • NM_022773.3:c.1092G>A
  • NM_022773.4:c.1092G>A
  • NR_147885.2:n.1096G>A
Links:
dbSNP: rs111829625
NCBI 1000 Genomes Browser:
rs111829625
Molecular consequence:
  • NR_147885.2:n.1096G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_001352017.2:c.441G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352018.2:c.693G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352019.2:c.765G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352020.1:c.1092G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001352021.2:c.441G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_022773.4:c.1092G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002732963Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Feb 17, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002732963.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Sep 29, 2024