Genetic Variant ANO5:c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG (chr11-22193331-A-AAGGAGGAGGGGAATGAGGAGAAGG) – ACMG Classification: Uncertain_significance (0 pts)

Variant summary

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

The NM_213599.3(ANO5):c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000156 in 1,279,968 control chromosomes in the GnomAD database, with no homozygous occurrence. It is difficult to determine the true allele frequency of this variant because it is of type INS_BIG, and the frequency of such variant types in population databases may be underestimated and unreliable. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: not found (cov: 0)

Exomes 𝑓: 0.0000016 ( 0 hom. )

Consequence

ANO5
NM_213599.3 5_prime_UTR

Scores

Not classified

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: -2.16

Publications

2 publications found

Variant links:

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

ANO5 links:

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ACMG classification

Classification was made for transcript

Our verdict: Uncertain_significance. The variant received 0 ACMG points.

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

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
ANO5	NM_213599.3	MANE Select	c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG	5_prime_UTR	Exon 1 of 22	NP_998764.1	Q75V66
ANO5	NM_001142649.2		c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG	5_prime_UTR	Exon 1 of 22	NP_001136121.1
ANO5	NM_001410963.1		c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG	5_prime_UTR	Exon 1 of 21	NP_001397892.1	A0A804HL91

Ensembl Transcripts

Gene	Transcript	Tags	HGVSc	Effect	Exon Rank	Protein	UniProt
ANO5	ENST00000324559.9	TSL:1 MANE Select	c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG	5_prime_UTR	Exon 1 of 22	ENSP00000315371.9	Q75V66
ANO5	ENST00000682341.1		c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG	5_prime_UTR	Exon 1 of 21	ENSP00000508251.1	A0A804HL91
ANO5	ENST00000684663.1		c.-156_-155insAGGGGAATGAGGAGAAGGAGGAGG	5_prime_UTR	Exon 1 of 21	ENSP00000508009.1	A0A804HKP2

Frequencies

GnomAD3 genomes

Cov.:

GnomAD4 exome

AF:

0.00000156

AC:

AN:

1279968

Hom.:

Cov.:

AF XY:

0.00000161

AC XY:

AN XY:

620614

show subpopulations

African (AFR)

AF:

0.00

AC:

AN:

28126

American (AMR)

AF:

0.00

AC:

AN:

28472

Ashkenazi Jewish (ASJ)

AF:

0.00

AC:

AN:

19334

East Asian (EAS)

AF:

0.0000588

AC:

AN:

34020

South Asian (SAS)

AF:

0.00

AC:

AN:

63796

European-Finnish (FIN)

AF:

0.00

AC:

AN:

29838

Middle Eastern (MID)

AF:

0.00

AC:

AN:

4974

European-Non Finnish (NFE)

AF:

0.00

AC:

AN:

1018608

Other (OTH)

AF:

0.00

AC:

AN:

52800

Allele Balance Distribution

Red line indicates average allele balance

Average allele balance: 0.575

Heterozygous variant carriers

0.00

0.20

0.40

0.60

0.80

0.95

Allele balance

Age Distribution

Exome Het

Variant carriers

<30

30-35

35-40

40-45

45-50

50-55

55-60

60-65

65-70

70-75

75-80

>80

Age

GnomAD4 genome

Cov.:

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name

Calibrated prediction

Score

Prediction

PhyloP100

-2.2

Splicing

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

Publications

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11-22193331-AAGG-AAGGAGGAGGGGAATGAGGAGAAGGAGG

Variant summary

Frequency

Consequence

Scores

Clinical Significance

Conservation

Publications

ACMG classification

Variant Effect in Transcripts

RefSeq Transcripts

Ensembl Transcripts

Frequencies

Age Distribution

ClinVar

Computational scores

Splicing

Publications

Other links and lift over