MINAR2

membrane integral NOTCH2 associated receptor 2

Basic information

Region (hg38): 5:129748094-129766732

Previous symbols: [ "KIAA1024L" ]

Links

ENSG00000186367 ∙ NCBI:100127206 ∙ OMIM:620215 ∙ HGNC:33914 ∙ Uniprot:P59773 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hearing loss, autosomal recessive 120 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Deafness, autosomal recessive 120	AR	Audiologic/Otolaryngologic	Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development	Audiologic/Otolaryngologic	35727972

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MINAR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MINAR2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			1			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	1	0

Variants in MINAR2

This is a list of pathogenic ClinVar variants found in the MINAR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
5-129748274-C-G		MINAR2-related condition	Likely benign (Sep 18, 2024)
5-129748334-G-A		Hearing loss, autosomal recessive 120	Pathogenic (Feb 08, 2023)
5-129760450-C-T			Uncertain significance (Nov 01, 2023)
5-129760522-G-A		MINAR2-related condition	Likely benign (Apr 25, 2024)
5-129760605-G-T		Hearing loss, autosomal recessive 120	Pathogenic (Feb 08, 2023)
5-129764899-CTGCGGTTT-C		Hearing loss, autosomal recessive 120	Pathogenic (Feb 08, 2023)
5-129764902-C-T		MINAR2-related condition	Likely benign (Apr 25, 2024)
5-129765012-C-T			Likely benign (Feb 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MINAR2	protein_coding	protein_coding	ENST00000564719	3	18654

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00133	0.670	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.673	67	84.4	0.794	0.00000410	1238
Missense in Polyphen		22	26.037	0.84495		408
Synonymous	1.14	24	32.2	0.744	0.00000167	363
Loss of Function	0.689	5	6.96	0.718	3.93e-7	95

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.201

Mouse Genome Informatics

• Gene name: Minar2
• Phenotype: skeleton phenotype