TH2LCRR

T helper type 2 locus control region associated RNA, the group of Long non-coding RNAs with non-systematic symbols

Basic information

Links

ENSG00000223442

∙ NCBI:101927761 ∙ ∙ HGNC:40495 ∙ ∙ ∙ 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 TH2LCRR gene.

Hereditary cancer-predisposing syndrome (598 variants)
Nijmegen breakage syndrome-like disorder (56 variants)
not provided (26 variants)
not specified (16 variants)
Familial cancer of breast (5 variants)
Inborn genetic diseases (5 variants)
Ovarian cancer (5 variants)
RAD50-related condition (3 variants)
Hereditary breast ovarian cancer syndrome (3 variants)
Inherited susceptibility to asthma (2 variants)
Premature ovarian insufficiency (1 variants)
Allergic rhinitis, susceptibility to (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TH2LCRR 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)	1 clinvar	7 clinvar	32 clinvar	10 clinvar		50
splice region ? Intron variants in splice region, excluding donor/acceptor (+/-2bp)						0
non coding ? UTR, intron and other, non coding variants	17 clinvar	26 clinvar	327 clinvar	192 clinvar	12 clinvar	574
Total	18	33	359	202	12

Highest pathogenic variant AF is 0.0000329

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP