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NM_032858.3(MAEL):c.872T>C (p.Ile291Thr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 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:
RCV004413425.1

Allele description [Variation Report for NM_032858.3(MAEL):c.872T>C (p.Ile291Thr)]

NM_032858.3(MAEL):c.872T>C (p.Ile291Thr)

Gene:
MAEL:maelstrom spermatogenic transposon silencer [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q24.1
Genomic location:
Preferred name:
NM_032858.3(MAEL):c.872T>C (p.Ile291Thr)
HGVS:
  • NC_000001.11:g.167016248T>C
  • NM_001286377.2:c.779T>C
  • NM_001286378.2:c.704T>C
  • NM_032858.3:c.872T>CMANE SELECT
  • NP_001273306.1:p.Ile260Thr
  • NP_001273307.1:p.Ile235Thr
  • NP_116247.1:p.Ile291Thr
  • NC_000001.10:g.166985485T>C
  • NM_032858.1:c.872T>C
Protein change:
I235T
Molecular consequence:
  • NM_001286377.2:c.779T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001286378.2:c.704T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_032858.3:c.872T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV004902259Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Dec 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, SCV004902259.1

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

Description

The c.872T>C (p.I291T) alteration is located in exon 9 (coding exon 9) of the MAEL gene. This alteration results from a T to C substitution at nucleotide position 872, causing the isoleucine (I) at amino acid position 291 to be replaced by a threonine (T). 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