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NM_033386.4(MICALL1):c.371C>T (p.Pro124Leu) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 23, 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:
RCV004419636.1

Allele description [Variation Report for NM_033386.4(MICALL1):c.371C>T (p.Pro124Leu)]

NM_033386.4(MICALL1):c.371C>T (p.Pro124Leu)

Gene:
MICALL1:MICAL like 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.1
Genomic location:
Preferred name:
NM_033386.4(MICALL1):c.371C>T (p.Pro124Leu)
HGVS:
  • NC_000022.11:g.37917740C>T
  • NM_001410818.1:c.371C>T
  • NM_001410819.1:c.371C>T
  • NM_001410820.1:c.371C>T
  • NM_033386.4:c.371C>TMANE SELECT
  • NP_001397747.1:p.Pro124Leu
  • NP_001397748.1:p.Pro124Leu
  • NP_001397749.1:p.Pro124Leu
  • NP_203744.1:p.Pro124Leu
  • NC_000022.10:g.38313747C>T
  • NM_033386.3:c.371C>T
Protein change:
P124L
Molecular consequence:
  • NM_001410818.1:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410819.1:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001410820.1:c.371C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033386.4:c.371C>T - 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
SCV004906306Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Sep 23, 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, SCV004906306.1

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

Description

The c.371C>T (p.P124L) alteration is located in exon 4 (coding exon 4) of the MICALL1 gene. This alteration results from a C to T substitution at nucleotide position 371, causing the proline (P) at amino acid position 124 to be replaced by a leucine (L). 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