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NM_015416.5(LETMD1):c.554C>G (p.Ala185Gly) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 27, 2023
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:
RCV004412794.1

Allele description [Variation Report for NM_015416.5(LETMD1):c.554C>G (p.Ala185Gly)]

NM_015416.5(LETMD1):c.554C>G (p.Ala185Gly)

Gene:
LETMD1:LETM1 domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_015416.5(LETMD1):c.554C>G (p.Ala185Gly)
HGVS:
  • NC_000012.12:g.51055915C>G
  • NG_029858.2:g.12696C>G
  • NG_029858.3:g.12697C>G
  • NM_001243689.2:c.593C>G
  • NM_001300765.2:c.391-435C>G
  • NM_001351312.2:c.386C>G
  • NM_001351313.2:c.83C>G
  • NM_001351315.2:c.575C>G
  • NM_001351316.2:c.575C>G
  • NM_001351317.2:c.554C>G
  • NM_001351318.1:c.575C>G
  • NM_001351319.2:c.386C>G
  • NM_001351320.2:c.386C>G
  • NM_001351321.2:c.391-229C>G
  • NM_001351322.2:c.272C>G
  • NM_001351323.2:c.272C>G
  • NM_001351324.2:c.272C>G
  • NM_001351325.2:c.358-229C>G
  • NM_001351326.2:c.236C>G
  • NM_001351327.2:c.236C>G
  • NM_001351328.2:c.412-435C>G
  • NM_001351330.2:c.203C>G
  • NM_001351332.2:c.275-72C>G
  • NM_001351333.2:c.391-435C>G
  • NM_001351334.2:c.83C>G
  • NM_001351335.2:c.83C>G
  • NM_001351336.2:c.83C>G
  • NM_001351337.2:c.391-435C>G
  • NM_015416.5:c.554C>GMANE SELECT
  • NP_001230618.1:p.Ala198Gly
  • NP_001338241.1:p.Ala129Gly
  • NP_001338242.1:p.Ala28Gly
  • NP_001338244.1:p.Ala192Gly
  • NP_001338245.1:p.Ala192Gly
  • NP_001338246.1:p.Ala185Gly
  • NP_001338247.1:p.Ala192Gly
  • NP_001338248.1:p.Ala129Gly
  • NP_001338249.1:p.Ala129Gly
  • NP_001338251.1:p.Ala91Gly
  • NP_001338252.1:p.Ala91Gly
  • NP_001338253.1:p.Ala91Gly
  • NP_001338255.1:p.Ala79Gly
  • NP_001338256.1:p.Ala79Gly
  • NP_001338259.1:p.Ala68Gly
  • NP_001338263.1:p.Ala28Gly
  • NP_001338264.1:p.Ala28Gly
  • NP_001338265.1:p.Ala28Gly
  • NP_056231.3:p.Ala185Gly
  • NC_000012.11:g.51449698C>G
  • NM_015416.4:c.554C>G
  • NR_045017.1:n.487C>G
  • NR_045018.1:n.496C>G
  • NR_045019.2:n.385C>G
  • NR_147104.2:n.940C>G
  • NR_147106.2:n.278C>G
  • NR_147107.2:n.940C>G
  • NR_147108.2:n.501C>G
  • NR_147110.2:n.233C>G
  • NR_147118.2:n.1105C>G
  • NR_147119.2:n.1139C>G
Protein change:
A129G
Molecular consequence:
  • NM_001300765.2:c.391-435C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351321.2:c.391-229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351325.2:c.358-229C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351328.2:c.412-435C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351332.2:c.275-72C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351333.2:c.391-435C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001351337.2:c.391-435C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001243689.2:c.593C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351312.2:c.386C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351313.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351315.2:c.575C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351316.2:c.575C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351317.2:c.554C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351318.1:c.575C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351319.2:c.386C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351320.2:c.386C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351322.2:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351323.2:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351324.2:c.272C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351326.2:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351327.2:c.236C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351330.2:c.203C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351334.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351335.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001351336.2:c.83C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_015416.5:c.554C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_045019.2:n.385C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147104.2:n.940C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147106.2:n.278C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147107.2:n.940C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147108.2:n.501C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147110.2:n.233C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147118.2:n.1105C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_147119.2:n.1139C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004897553Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 27, 2023) 		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, SCV004897553.1

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

Description

The c.554C>G (p.A185G) alteration is located in exon 5 (coding exon 5) of the LETMD1 gene. This alteration results from a C to G substitution at nucleotide position 554, causing the alanine (A) at amino acid position 185 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: May 7, 2024