SNHG31

small nucleolar RNA host gene 31, the group of Small nucleolar RNA non-coding host genes

Basic information

Region (hg38): 2:214809470-214963622

Links

ENSG00000229267 ∙ NCBI:101928103 ∙ ∙ HGNC:54196 ∙ ∙ ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SNHG31 gene.

• not provided (62 variants)
• Congenital ichthyosis of skin (56 variants)
• Inborn genetic diseases (19 variants)
• Autosomal recessive congenital ichthyosis 4B (16 variants)
• Autosomal recessive congenital ichthyosis 4A (7 variants)
• not specified (5 variants)
• Congenital ichthyosiform erythroderma (4 variants)
• Lamellar ichthyosis (3 variants)
• ABCA12-related condition (2 variants)
• Autosomal recessive congenital ichthyosis 4A;Autosomal recessive congenital ichthyosis 4B (2 variants)
• Autosomal recessive congenital ichthyosis 4B;Autosomal recessive congenital ichthyosis 4A (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SNHG31 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding	9	13	74	23	20	139
Total	9	13	74	23	20

Highest pathogenic variant AF is 0.0000132

Variants in SNHG31

This is a list of pathogenic ClinVar variants found in the SNHG31 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-214809470-AG-A		Familial cancer of breast	Pathogenic (Sep 19, 2021)
2-214809471-G-A		not specified	Likely benign (May 24, 2017)
2-214809472-G-A		Familial cancer of breast • Hereditary cancer-predisposing syndrome • not specified	Conflicting classifications of pathogenicity (Dec 04, 2023)
2-214809472-G-C		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 04, 2023)
2-214809473-C-A		Familial cancer of breast • Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 31, 2023)
2-214809473-C-G		Hereditary cancer-predisposing syndrome • Familial cancer of breast • not specified	Uncertain significance (Jan 28, 2024)
2-214809475-C-A		Hereditary cancer-predisposing syndrome • Familial cancer of breast • Hereditary breast ovarian cancer syndrome • not specified	Conflicting classifications of pathogenicity (Aug 27, 2023)
2-214809476-C-A		Familial cancer of breast	Uncertain significance (Mar 23, 2022)
2-214809476-C-G		Familial cancer of breast	Uncertain significance (Aug 27, 2021)
2-214809476-C-T		Familial cancer of breast • Hereditary cancer-predisposing syndrome	Uncertain significance (May 11, 2023)
2-214809477-G-A		Hereditary cancer-predisposing syndrome • Familial cancer of breast • not specified	Likely benign (Jan 22, 2024)
2-214809477-G-C		Familial cancer of breast • Hereditary cancer-predisposing syndrome • BARD1-related disorder	Conflicting classifications of pathogenicity (Jan 06, 2024)
2-214809477-G-T		Familial cancer of breast	Likely benign (Jul 03, 2022)
2-214809477-G-GC		Familial cancer of breast	Pathogenic (May 24, 2023)
2-214809478-C-T			Uncertain significance (Dec 27, 2022)
2-214809479-G-A		Hereditary cancer-predisposing syndrome • Familial cancer of breast	Uncertain significance (Aug 02, 2023)
2-214809479-G-C		Familial cancer of breast • Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 22, 2022)
2-214809480-A-C		Hereditary cancer-predisposing syndrome	Likely benign (Sep 05, 2023)
2-214809480-A-G		Hereditary cancer-predisposing syndrome	Likely benign (Apr 16, 2021)
2-214809480-A-T		Hereditary cancer-predisposing syndrome • not specified • Familial cancer of breast • Hereditary breast ovarian cancer syndrome • BARD1-related disorder	Benign/Likely benign (Jan 28, 2024)
2-214809482-C-A		Familial cancer of breast • Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 04, 2022)
2-214809482-C-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 28, 2021)
2-214809483-A-G		Familial cancer of breast	Likely benign (Aug 30, 2020)
2-214809483-A-T		Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 05, 2023)
2-214809484-T-A		Hereditary cancer-predisposing syndrome • Familial cancer of breast	Uncertain significance (Jul 09, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP