NM_152513.4(MEI1):c.410A>C (p.Glu137Ala) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 29, 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:: RCV004424092.1

Allele description [Variation Report for NM_152513.4(MEI1):c.410A>C (p.Glu137Ala)]

NM_152513.4(MEI1):c.410A>C (p.Glu137Ala)

Gene:

MEI1:meiotic double-stranded break formation protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

NM_152513.4(MEI1):c.410A>C (p.Glu137Ala)

HGVS:

NC_000022.11:g.41714062A>C
NM_152513.4:c.410A>CMANE SELECT
NP_689726.3:p.Glu137Ala
NC_000022.10:g.42110066A>C
NM_152513.3:c.410A>C

Protein change:

E137A

Molecular consequence:

NM_152513.4:c.410A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

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acyl-CoA-binding domain-containing protein 6 isoform 3 [Mus musculus]
acyl-CoA-binding domain-containing protein 6 isoform 3 [Mus musculus]
gi|224809393|ref|NP_080959.1|

Protein
Childhood Chordoma Treatment (PDQ®) - PDQ Cancer Information Summaries
Childhood Chordoma Treatment (PDQ®) - PDQ Cancer Information Summaries
PREDICTED: Mus musculus septin 6 (Septin6), transcript variant X4, mRNA
PREDICTED: Mus musculus septin 6 (Septin6), transcript variant X4, mRNA
gi|1907205298|ref|XM_036162051.1|

Nucleotide
Lycianthes glandulosa FRUITFULL 2 MADS-box transcription factor gene, complete c...
Lycianthes glandulosa FRUITFULL 2 MADS-box transcription factor gene, complete cds
gi|1215530330|gb|KY620277.1|

Nucleotide
polycystin-2-like protein 2 isoform X8 [Mus musculus]
polycystin-2-like protein 2 isoform X8 [Mus musculus]
gi|569004212|ref|XP_006526167.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004905410	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jan 29, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004905410

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jan 29, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV004905410.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.410A>C (p.E137A) alteration is located in exon 4 (coding exon 4) of the MEI1 gene. This alteration results from a A to C substitution at nucleotide position 410, causing the glutamic acid (E) at amino acid position 137 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 7, 2024

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