rs71034576

Variant names:

• chr11-22193331-AAGG-A
• rs71034576
• NM_213599.3:c.-158_-156delAGG

Your query was ambiguous. Multiple possible variants found:

• chr11-22193331-AAGG-A
• chr11-22193331-AAGG-AAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGAGAATGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAAGGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAAGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGAAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGGAAGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGATGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGAATGGGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGACTGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGGGATGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGAGGGTAATGAGGAGGAGGAGG
• chr11-22193331-AAGG-AAGGAGGGGAATGAGGAGGAGGAGG

Variant summary

Our verdict is Uncertain significance. The variant received 2 ACMG points: 2P and 0B. PM2

The NM_213599.3(ANO5):​c.-158_-156delAGG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000028 in 1,430,594 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: 𝑓 0.0000066 (0 hom., cov: 0)
  • Exomes 𝑓: 0.0000023 (0 hom.)
• Consequence: ANO5 NM_213599.3 5_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.0790
• Publications: 2 publications found

Genes affected

ANO5 (HGNC:27337): (anoctamin 5) This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]

ANO5 Gene-Disease associations (from GenCC):

• gnathodiaphyseal dysplasia

  Inheritance: AD Classification: DEFINITIVE, STRONG, MODERATE, SUPPORTIVE Submitted by: G2P, ClinGen, Labcorp Genetics (formerly Invitae), Orphanet
• autosomal recessive limb-girdle muscular dystrophy

  Inheritance: AR Classification: DEFINITIVE Submitted by: ClinGen
• autosomal recessive limb-girdle muscular dystrophy type 2L

  Inheritance: AR Classification: STRONG, SUPPORTIVE, LIMITED Submitted by: G2P, Orphanet, Labcorp Genetics (formerly Invitae)
• Miyoshi muscular dystrophy 3

  Inheritance: AR Classification: STRONG Submitted by: Labcorp Genetics (formerly Invitae)

ACMG classification

Our verdict: Uncertain_significance. The variant received 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_213599.3. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANO5	NM_213599.3	MANE Select	c.-158_-156delAGG		5_prime_UTR	Exon 1 of 22	NP_998764.1	Q75V66
	ANO5	NM_001142649.2		c.-158_-156delAGG		5_prime_UTR	Exon 1 of 22	NP_001136121.1
	ANO5	NM_001410963.1		c.-158_-156delAGG		5_prime_UTR	Exon 1 of 21	NP_001397892.1	A0A804HL91

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	ANO5	ENST00000324559.9	TSL:1 MANE Select	c.-158_-156delAGG		5_prime_UTR	Exon 1 of 22	ENSP00000315371.9	Q75V66
	ANO5	ENST00000682341.1		c.-158_-156delAGG		5_prime_UTR	Exon 1 of 21	ENSP00000508251.1	A0A804HL91
	ANO5	ENST00000684663.1		c.-158_-156delAGG		5_prime_UTR	Exon 1 of 21	ENSP00000508009.1	A0A804HKP2

Frequencies

GnomAD3 genomes AF: 0.00000664 AC: 1 AN: 150626 Hom.: 0 Cov.: 0

Gnomad AFR AF: 0.00

Gnomad AMI AF: 0.00

Gnomad AMR AF: 0.00

Gnomad ASJ AF: 0.00

Gnomad EAS AF: 0.00

Gnomad SAS AF: 0.00

Gnomad FIN AF: 0.00

Gnomad MID AF: 0.00

Gnomad NFE AF: 0.0000148

Gnomad OTH AF: 0.00

GnomAD4 exome AF: 0.00000234 AC: 3 AN: 1279968 Hom.: 0 AF XY: 0.00000161 AC XY: 1 AN XY: 620614

African (AFR) AF: 0.00 AC: 0 AN: 28126

American (AMR) AF: 0.00 AC: 0 AN: 28472

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 19334

East Asian (EAS) AF: 0.00 AC: 0 AN: 34020

South Asian (SAS) AF: 0.00 AC: 0 AN: 63796

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 29838

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 4974

European-Non Finnish (NFE) AF: 0.00000295 AC: 3 AN: 1018608

Other (OTH) AF: 0.00 AC: 0 AN: 52800

GnomAD4 genome AF: 0.00000664 AC: 1 AN: 150626 Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0 AN XY: 73448

African (AFR) AF: 0.00 AC: 0 AN: 40960

American (AMR) AF: 0.00 AC: 0 AN: 15178

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 3462

East Asian (EAS) AF: 0.00 AC: 0 AN: 5022

South Asian (SAS) AF: 0.00 AC: 0 AN: 4748

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 10394

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 314

European-Non Finnish (NFE) AF: 0.0000148 AC: 1 AN: 67586

Other (OTH) AF: 0.00 AC: 0 AN: 2062

Alfa AF: 0.00 Hom.: 1563

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
PhyloP100		-0.079

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs71034576; hg19: chr11-22214877;