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NM_019032.6(ADAMTSL4):c.1650C>T (p.Ala550=) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 22, 2024
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:
RCV004614405.1

Allele description [Variation Report for NM_019032.6(ADAMTSL4):c.1650C>T (p.Ala550=)]

NM_019032.6(ADAMTSL4):c.1650C>T (p.Ala550=)

Genes:
ADAMTSL4:ADAMTS like 4 [Gene - OMIM - HGNC]
ADAMTSL4-AS2:ADAMTSL4 antisense RNA 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q21.2
Genomic location:
Preferred name:
NM_019032.6(ADAMTSL4):c.1650C>T (p.Ala550=)
HGVS:
  • NC_000001.11:g.150556694C>T
  • NG_012172.1:g.12273C>T
  • NM_001288607.2:c.1719C>T
  • NM_001288608.2:c.1719C>T
  • NM_001378596.1:c.1650C>T
  • NM_019032.4:c.1650C>T
  • NM_019032.6:c.1650C>TMANE SELECT
  • NM_025008.5:c.1650C>T
  • NP_001275536.1:p.Ala573=
  • NP_001275537.1:p.Ala573=
  • NP_001365525.1:p.Ala550=
  • NP_061905.2:p.Ala550=
  • NP_079284.2:p.Ala550=
  • NC_000001.10:g.150529170C>T
Molecular consequence:
  • NM_001288607.2:c.1719C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001288608.2:c.1719C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001378596.1:c.1650C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_019032.6:c.1650C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_025008.5:c.1650C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005103726Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Apr 22, 2024) 		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, SCV005103726.1

#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